Canonical Allele Identifier: CA012519

Gene: PMS2

Linked Data

• ClinVar Variation Id: 182799
• ClinVar RCV Id: RCV000160883 ; RCV000216783 ; RCV001043071
• dbSNP Id: rs730881909
• gnomAD v2: 7-6038759-A-G
• MyVariant Identifiers: chr7:g.6038759A>G (hg19) ; chr7:g.5999128A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5999128A>G , CM000669.2:g.5999128A>G	GRCh38
NC_000007.13:g.6038759A>G , CM000669.1:g.6038759A>G	GRCh37
NC_000007.12:g.6005285A>G	NCBI36
NG_008466.1:g.14979T>C , LRG_161:g.14979T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*279T>C	ENSP00000514615.2:n.*279T>C
ENST00000699840.2:c.682T>C	ENSP00000514638.2:p.Ser228Pro
ENST00000699930.2:c.597+88T>C	ENSP00000514695.2:n.597+88T>C
ENST00000406569.8:c.685T>C	ENSP00000514464.1:p.Ser229Pro
ENST00000644110.2:c.*279T>C	ENSP00000496392.2:n.*279T>C
ENST00000699752.1:c.685T>C	ENSP00000514561.1:p.Ser229Pro
ENST00000699753.1:c.*84T>C	ENSP00000514562.1:n.*84T>C
ENST00000699754.1:c.685T>C	ENSP00000514563.1:p.Ser229Pro
ENST00000699755.1:c.*84T>C	ENSP00000514564.1:n.*84T>C
ENST00000699756.1:c.*272T>C	ENSP00000514565.1:n.*272T>C
ENST00000699757.1:c.134T>C	ENSP00000514566.1:p.Leu45Pro
ENST00000699758.1:c.398T>C	ENSP00000514567.1:p.Leu133Pro
ENST00000699759.1:n.757T>C
ENST00000699760.1:c.367T>C	ENSP00000514568.1:p.Ser123Pro
ENST00000699761.1:c.280T>C	ENSP00000514569.1:p.Ser94Pro
ENST00000699762.1:c.133-1705T>C	ENSP00000514570.1:n.133-1705T>C
ENST00000699763.1:c.280T>C	ENSP00000514571.1:p.Ser94Pro
ENST00000699764.1:c.685T>C	ENSP00000514572.1:p.Ser229Pro
ENST00000699765.1:c.367T>C	ENSP00000514573.1:p.Ser123Pro
ENST00000699766.1:c.685T>C	ENSP00000514574.1:p.Ser229Pro
ENST00000699767.1:c.685T>C	ENSP00000514575.1:p.Ser229Pro
ENST00000699768.1:c.685T>C	ENSP00000514576.1:p.Ser229Pro
ENST00000699811.1:c.280T>C	ENSP00000514614.1:p.Ser94Pro
ENST00000699813.1:n.798T>C
ENST00000699814.1:c.506T>C
ENST00000699815.1:c.*186T>C	ENSP00000514616.1:n.*186T>C
ENST00000699816.1:c.280T>C	ENSP00000514617.1:p.Ser94Pro
ENST00000699817.1:c.*279T>C	ENSP00000514618.1:n.*279T>C
ENST00000699818.1:c.280T>C	ENSP00000514619.1:p.Ser94Pro
ENST00000699819.1:c.218T>C	ENSP00000514620.1:p.Leu73Pro
ENST00000699820.1:c.685T>C	ENSP00000514621.1:p.Ser229Pro
ENST00000699821.1:c.280T>C	ENSP00000514622.1:p.Ser94Pro
ENST00000699822.1:c.*137T>C	ENSP00000514623.1:n.*137T>C
ENST00000699823.1:c.280T>C	ENSP00000514624.1:p.Ser94Pro
ENST00000699824.1:c.*188T>C	ENSP00000514625.1:n.*188T>C
ENST00000699825.1:c.280T>C	ENSP00000514626.1:p.Ser94Pro
ENST00000699826.1:c.*84T>C	ENSP00000514627.1:n.*84T>C
ENST00000699827.1:c.538-1705T>C	ENSP00000514628.1:n.538-1705T>C
ENST00000699828.1:c.685T>C	ENSP00000514629.1:p.Ser229Pro
ENST00000699829.1:c.*186T>C	ENSP00000514630.1:n.*186T>C
ENST00000699830.1:c.*84T>C	ENSP00000514631.1:n.*84T>C
ENST00000699831.1:n.597T>C
ENST00000699832.1:n.968T>C
ENST00000699833.1:n.765T>C
ENST00000699834.1:n.807+84T>C
ENST00000699837.1:c.280T>C	ENSP00000514635.1:p.Ser94Pro
ENST00000699838.1:c.*585T>C	ENSP00000514636.1:n.*585T>C
ENST00000699839.1:c.871T>C	ENSP00000514637.1:p.Ser291Pro
ENST00000699840.1:c.682T>C	ENSP00000514638.1:p.Ser228Pro
ENST00000699916.1:c.233T>C	ENSP00000514684.1:p.Leu78Pro
ENST00000699917.1:c.*134T>C	ENSP00000514685.1:n.*134T>C
ENST00000699918.1:c.*186T>C	ENSP00000514686.1:n.*186T>C
ENST00000699919.1:c.*272T>C	ENSP00000514687.1:n.*272T>C
ENST00000699920.1:c.*321T>C	ENSP00000514688.1:n.*321T>C
ENST00000699928.1:c.685T>C	ENSP00000514693.1:p.Ser229Pro
ENST00000699929.1:c.*84T>C	ENSP00000514694.1:n.*84T>C
ENST00000699930.1:c.597+88T>C	ENSP00000514695.1:n.597+88T>C
ENST00000699931.1:n.796T>C
ENST00000699932.1:c.685T>C	ENSP00000514696.1:p.Ser229Pro
ENST00000699933.1:n.765T>C
ENST00000699951.1:c.685T>C	ENSP00000514706.1:p.Ser229Pro
ENST00000699952.1:c.685T>C	ENSP00000514707.1:p.Ser229Pro
ENST00000699953.1:c.685T>C	ENSP00000514708.1:p.Ser229Pro
ENST00000699954.1:c.*84T>C	ENSP00000514709.1:n.*84T>C
ENST00000265849.12:c.685T>C MANE Select	ENSP00000265849.7:p.Ser229Pro
ENST00000642292.1:c.280T>C	ENSP00000495524.1:p.Ser94Pro
ENST00000642456.1:c.280T>C	ENSP00000493814.1:p.Ser94Pro
ENST00000643595.1:c.*84T>C	ENSP00000494497.1:n.*84T>C
ENST00000644110.1:c.367T>C	ENSP00000496392.1:p.Ser123Pro
ENST00000265849.11:c.685T>C	ENSP00000265849.7:p.Ser229Pro
ENST00000382321.5:c.685T>C	ENSP00000371758.4:p.Ser229Pro
ENST00000406569.7:n.685T>C
ENST00000441476.6:c.367T>C	ENSP00000392843.2:p.Ser123Pro
ENST00000469652.1:n.62+6865T>C
NM_000535.5:c.685T>C , LRG_161t1:c.685T>C	NP_000526.1:p.Ser229Pro
NR_003085.2:n.767T>C
XM_006715742.2:c.679T>C	XP_006715805.1:p.Ser227Pro
XM_011515427.1:c.730T>C	XP_011513729.1:p.Ser244Pro
XM_011515428.1:c.730T>C	XP_011513730.1:p.Ser244Pro
XM_011515429.1:c.367T>C	XP_011513731.1:p.Ser123Pro
XM_011515430.1:c.367T>C	XP_011513732.1:p.Ser123Pro
NM_000535.6:c.685T>C	NP_000526.2:p.Ser229Pro
NM_001322003.1:c.280T>C	NP_001308932.1:p.Ser94Pro
NM_001322004.1:c.280T>C	NP_001308933.1:p.Ser94Pro
NM_001322005.1:c.280T>C	NP_001308934.1:p.Ser94Pro
NM_001322006.1:c.685T>C	NP_001308935.1:p.Ser229Pro
NM_001322007.1:c.367T>C	NP_001308936.1:p.Ser123Pro
NM_001322008.1:c.367T>C	NP_001308937.1:p.Ser123Pro
NM_001322009.1:c.280T>C	NP_001308938.1:p.Ser94Pro
NM_001322010.1:c.280T>C	NP_001308939.1:p.Ser94Pro
NM_001322011.1:c.-249T>C	NP_001308940.1:n.-249T>C
NM_001322012.1:c.-249T>C	NP_001308941.1:n.-249T>C
NM_001322013.1:c.133-1705T>C	NP_001308942.1:n.133-1705T>C
NM_001322014.1:c.685T>C	NP_001308943.1:p.Ser229Pro
NM_001322015.1:c.376T>C	NP_001308944.1:p.Ser126Pro
NR_136154.1:n.772T>C
XM_017012342.2:c.-149T>C	XP_016867831.1:n.-149T>C
XM_024446800.1:c.280T>C	XP_024302568.1:p.Ser94Pro
NM_000535.7:c.685T>C MANE Select	NP_000526.2:p.Ser229Pro
NM_001322003.2:c.280T>C	NP_001308932.1:p.Ser94Pro
NM_001322004.2:c.280T>C	NP_001308933.1:p.Ser94Pro
NM_001322005.2:c.280T>C	NP_001308934.1:p.Ser94Pro
NM_001322006.2:c.685T>C	NP_001308935.1:p.Ser229Pro
NM_001322008.2:c.367T>C	NP_001308937.1:p.Ser123Pro
NM_001322009.2:c.280T>C	NP_001308938.1:p.Ser94Pro
NM_001322010.2:c.280T>C	NP_001308939.1:p.Ser94Pro
NM_001322011.2:c.-249T>C	NP_001308940.1:n.-249T>C
NM_001322012.2:c.-249T>C	NP_001308941.1:n.-249T>C
NM_001322013.2:c.133-1705T>C	NP_001308942.1:n.133-1705T>C
NM_001322014.2:c.685T>C	NP_001308943.1:p.Ser229Pro
NM_001322015.2:c.376T>C	NP_001308944.1:p.Ser126Pro
NM_001322007.2:c.367T>C	NP_001308936.1:p.Ser123Pro