Canonical Allele Identifier: CA16618517

Gene: PMS2

Linked Data

• ClinVar Variation Id: 419694
• ClinVar RCV Id: RCV000482121 ; RCV003278828
• dbSNP Id: rs1060503125
• gnomAD v4: 7-5989827-T-G
• MyVariant Identifiers: chr7:g.6029458T>G (hg19) ; chr7:g.5989827T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5989827T>G , CM000669.2:g.5989827T>G	GRCh38
NC_000007.13:g.6029458T>G , CM000669.1:g.6029458T>G	GRCh37
NC_000007.12:g.5995984T>G	NCBI36
NG_008466.1:g.24280A>C , LRG_161:g.24280A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*513A>C	ENSP00000514615.2:n.*513A>C
ENST00000699840.2:c.1114A>C	ENSP00000514638.2:p.Ser372Arg
ENST00000699930.2:c.1009A>C	ENSP00000514695.2:p.Ser337Arg
ENST00000406569.8:c.1117A>C	ENSP00000514464.1:p.Ser373Arg
ENST00000644110.2:c.*711A>C	ENSP00000496392.2:n.*711A>C
ENST00000699752.1:c.988+2146A>C	ENSP00000514561.1:n.988+2146A>C
ENST00000699753.1:c.*538A>C	ENSP00000514562.1:n.*538A>C
ENST00000699754.1:c.919A>C	ENSP00000514563.1:p.Ser307Arg
ENST00000699755.1:c.*516A>C	ENSP00000514564.1:n.*516A>C
ENST00000699756.1:c.*704A>C	ENSP00000514565.1:n.*704A>C
ENST00000699757.1:c.*374A>C	ENSP00000514566.1:n.*374A>C
ENST00000699758.1:c.*374A>C	ENSP00000514567.1:n.*374A>C
ENST00000699759.1:n.1971A>C
ENST00000699760.1:c.799A>C	ENSP00000514568.1:p.Ser267Arg
ENST00000699761.1:c.712A>C	ENSP00000514569.1:p.Ser238Arg
ENST00000699762.1:c.544A>C	ENSP00000514570.1:p.Ser182Arg
ENST00000699763.1:c.*207A>C	ENSP00000514571.1:n.*207A>C
ENST00000699764.1:c.1117A>C	ENSP00000514572.1:p.Ser373Arg
ENST00000699765.1:c.*213A>C	ENSP00000514573.1:n.*213A>C
ENST00000699766.1:c.1117A>C	ENSP00000514574.1:p.Ser373Arg
ENST00000699767.1:c.1117A>C	ENSP00000514575.1:p.Ser373Arg
ENST00000699768.1:c.1117A>C	ENSP00000514576.1:p.Ser373Arg
ENST00000699811.1:c.712A>C	ENSP00000514614.1:p.Ser238Arg
ENST00000699813.1:n.1230A>C
ENST00000699814.1:c.740A>C
ENST00000699815.1:c.*609A>C	ENSP00000514616.1:n.*609A>C
ENST00000699816.1:c.712A>C	ENSP00000514617.1:p.Ser238Arg
ENST00000699817.1:c.*711A>C	ENSP00000514618.1:n.*711A>C
ENST00000699818.1:c.712A>C	ENSP00000514619.1:p.Ser238Arg
ENST00000699819.1:c.*274A>C	ENSP00000514620.1:n.*274A>C
ENST00000699820.1:c.1117A>C	ENSP00000514621.1:p.Ser373Arg
ENST00000699821.1:c.712A>C	ENSP00000514622.1:p.Ser238Arg
ENST00000699822.1:c.*569A>C	ENSP00000514623.1:n.*569A>C
ENST00000699823.1:c.712A>C	ENSP00000514624.1:p.Ser238Arg
ENST00000699824.1:c.*620A>C	ENSP00000514625.1:n.*620A>C
ENST00000699825.1:c.583+2146A>C	ENSP00000514626.1:n.583+2146A>C
ENST00000699826.1:c.*516A>C	ENSP00000514627.1:n.*516A>C
ENST00000699827.1:c.949A>C	ENSP00000514628.1:p.Ser317Arg
ENST00000699828.1:c.*207A>C	ENSP00000514629.1:n.*207A>C
ENST00000699829.1:c.*618A>C	ENSP00000514630.1:n.*618A>C
ENST00000699830.1:c.*516A>C	ENSP00000514631.1:n.*516A>C
ENST00000699833.1:n.2889A>C
ENST00000699837.1:c.712A>C	ENSP00000514635.1:p.Ser238Arg
ENST00000699838.1:c.*1017A>C	ENSP00000514636.1:n.*1017A>C
ENST00000699839.1:c.1303A>C	ENSP00000514637.1:p.Ser435Arg
ENST00000699840.1:c.1114A>C	ENSP00000514638.1:p.Ser372Arg
ENST00000699916.1:c.*374A>C	ENSP00000514684.1:n.*374A>C
ENST00000699917.1:c.*566A>C	ENSP00000514685.1:n.*566A>C
ENST00000699918.1:c.*618A>C	ENSP00000514686.1:n.*618A>C
ENST00000699919.1:c.*704A>C	ENSP00000514687.1:n.*704A>C
ENST00000699920.1:c.*753A>C	ENSP00000514688.1:n.*753A>C
ENST00000699928.1:c.988+2146A>C	ENSP00000514693.1:n.988+2146A>C
ENST00000699929.1:c.*418A>C	ENSP00000514694.1:n.*418A>C
ENST00000699930.1:c.1009A>C	ENSP00000514695.1:p.Ser337Arg
ENST00000699931.1:n.2545A>C
ENST00000699932.1:c.*335A>C	ENSP00000514696.1:n.*335A>C
ENST00000699933.1:n.1097A>C
ENST00000699951.1:c.*213A>C	ENSP00000514706.1:n.*213A>C
ENST00000699952.1:c.803+7499A>C	ENSP00000514707.1:n.803+7499A>C
ENST00000699953.1:c.*224A>C	ENSP00000514708.1:n.*224A>C
ENST00000699954.1:c.*418A>C	ENSP00000514709.1:n.*418A>C
ENST00000265849.12:c.1117A>C MANE Select	ENSP00000265849.7:p.Ser373Arg
ENST00000642292.1:c.712A>C	ENSP00000495524.1:p.Ser238Arg
ENST00000642456.1:c.712A>C	ENSP00000493814.1:p.Ser238Arg
ENST00000643595.1:c.*516A>C	ENSP00000494497.1:n.*516A>C
ENST00000644110.1:c.799A>C	ENSP00000496392.1:p.Ser267Arg
ENST00000265849.11:c.1117A>C	ENSP00000265849.7:p.Ser373Arg
ENST00000382321.5:c.804-6836A>C	ENSP00000371758.4:n.804-6836A>C
ENST00000406569.7:n.1117A>C
ENST00000441476.6:c.799A>C	ENSP00000392843.2:p.Ser267Arg
ENST00000469652.1:n.63-6922A>C
NM_000535.5:c.1117A>C , LRG_161t1:c.1117A>C	NP_000526.1:p.Ser373Arg
NR_003085.2:n.1199A>C
XM_006715742.2:c.1111A>C	XP_006715805.1:p.Ser371Arg
XM_006715744.2:c.184A>C	XP_006715807.1:p.Ser62Arg
XM_011515427.1:c.1162A>C	XP_011513729.1:p.Ser388Arg
XM_011515428.1:c.1033+2146A>C	XP_011513730.1:n.1033+2146A>C
XM_011515429.1:c.799A>C	XP_011513731.1:p.Ser267Arg
XM_011515430.1:c.799A>C	XP_011513732.1:p.Ser267Arg
NM_000535.6:c.1117A>C	NP_000526.2:p.Ser373Arg
NM_001322003.1:c.712A>C	NP_001308932.1:p.Ser238Arg
NM_001322004.1:c.712A>C	NP_001308933.1:p.Ser238Arg
NM_001322005.1:c.712A>C	NP_001308934.1:p.Ser238Arg
NM_001322006.1:c.988+2146A>C	NP_001308935.1:n.988+2146A>C
NM_001322007.1:c.799A>C	NP_001308936.1:p.Ser267Arg
NM_001322008.1:c.799A>C	NP_001308937.1:p.Ser267Arg
NM_001322009.1:c.712A>C	NP_001308938.1:p.Ser238Arg
NM_001322010.1:c.583+2146A>C	NP_001308939.1:n.583+2146A>C
NM_001322011.1:c.184A>C	NP_001308940.1:p.Ser62Arg
NM_001322012.1:c.184A>C	NP_001308941.1:p.Ser62Arg
NM_001322013.1:c.544A>C	NP_001308942.1:p.Ser182Arg
NM_001322014.1:c.1117A>C	NP_001308943.1:p.Ser373Arg
NM_001322015.1:c.808A>C	NP_001308944.1:p.Ser270Arg
NR_136154.1:n.1204A>C
XM_006715744.4:c.184A>C	XP_006715807.1:p.Ser62Arg
XM_017012342.2:c.184A>C	XP_016867831.1:p.Ser62Arg
XM_024446800.1:c.583+2146A>C	XP_024302568.1:n.583+2146A>C
NM_000535.7:c.1117A>C MANE Select	NP_000526.2:p.Ser373Arg
NM_001322003.2:c.712A>C	NP_001308932.1:p.Ser238Arg
NM_001322004.2:c.712A>C	NP_001308933.1:p.Ser238Arg
NM_001322005.2:c.712A>C	NP_001308934.1:p.Ser238Arg
NM_001322006.2:c.988+2146A>C	NP_001308935.1:n.988+2146A>C
NM_001322008.2:c.799A>C	NP_001308937.1:p.Ser267Arg
NM_001322009.2:c.712A>C	NP_001308938.1:p.Ser238Arg
NM_001322010.2:c.583+2146A>C	NP_001308939.1:n.583+2146A>C
NM_001322011.2:c.184A>C	NP_001308940.1:p.Ser62Arg
NM_001322012.2:c.184A>C	NP_001308941.1:p.Ser62Arg
NM_001322013.2:c.544A>C	NP_001308942.1:p.Ser182Arg
NM_001322014.2:c.1117A>C	NP_001308943.1:p.Ser373Arg
NM_001322015.2:c.808A>C	NP_001308944.1:p.Ser270Arg
NM_001322007.2:c.799A>C	NP_001308936.1:p.Ser267Arg