Canonical Allele Identifier: CA366742807

Gene: PMS2

Linked Data

• ClinVar Variation Id: 3072453
• ClinVar RCV Id: RCV004013475
• MyVariant Identifiers: chr7:g.6029475A>G (hg19) ; chr7:g.5989844A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5989844A>G , CM000669.2:g.5989844A>G	GRCh38
NC_000007.13:g.6029475A>G , CM000669.1:g.6029475A>G	GRCh37
NC_000007.12:g.5996001A>G	NCBI36
NG_008466.1:g.24263T>C , LRG_161:g.24263T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*496T>C	ENSP00000514615.2:n.*496T>C
ENST00000699840.2:c.1097T>C	ENSP00000514638.2:p.Val366Ala
ENST00000699930.2:c.992T>C	ENSP00000514695.2:p.Val331Ala
ENST00000406569.8:c.1100T>C	ENSP00000514464.1:p.Val367Ala
ENST00000644110.2:c.*694T>C	ENSP00000496392.2:n.*694T>C
ENST00000699752.1:c.988+2129T>C	ENSP00000514561.1:n.988+2129T>C
ENST00000699753.1:c.*521T>C	ENSP00000514562.1:n.*521T>C
ENST00000699754.1:c.902T>C	ENSP00000514563.1:p.Val301Ala
ENST00000699755.1:c.*499T>C	ENSP00000514564.1:n.*499T>C
ENST00000699756.1:c.*687T>C	ENSP00000514565.1:n.*687T>C
ENST00000699757.1:c.*357T>C	ENSP00000514566.1:n.*357T>C
ENST00000699758.1:c.*357T>C	ENSP00000514567.1:n.*357T>C
ENST00000699759.1:n.1954T>C
ENST00000699760.1:c.782T>C	ENSP00000514568.1:p.Val261Ala
ENST00000699761.1:c.695T>C	ENSP00000514569.1:p.Val232Ala
ENST00000699762.1:c.527T>C	ENSP00000514570.1:p.Val176Ala
ENST00000699763.1:c.*190T>C	ENSP00000514571.1:n.*190T>C
ENST00000699764.1:c.1100T>C	ENSP00000514572.1:p.Val367Ala
ENST00000699765.1:c.*196T>C	ENSP00000514573.1:n.*196T>C
ENST00000699766.1:c.1100T>C	ENSP00000514574.1:p.Val367Ala
ENST00000699767.1:c.1100T>C	ENSP00000514575.1:p.Val367Ala
ENST00000699768.1:c.1100T>C	ENSP00000514576.1:p.Val367Ala
ENST00000699811.1:c.695T>C	ENSP00000514614.1:p.Val232Ala
ENST00000699813.1:n.1213T>C
ENST00000699814.1:c.723T>C
ENST00000699815.1:c.*592T>C	ENSP00000514616.1:n.*592T>C
ENST00000699816.1:c.695T>C	ENSP00000514617.1:p.Val232Ala
ENST00000699817.1:c.*694T>C	ENSP00000514618.1:n.*694T>C
ENST00000699818.1:c.695T>C	ENSP00000514619.1:p.Val232Ala
ENST00000699819.1:c.*257T>C	ENSP00000514620.1:n.*257T>C
ENST00000699820.1:c.1100T>C	ENSP00000514621.1:p.Val367Ala
ENST00000699821.1:c.695T>C	ENSP00000514622.1:p.Val232Ala
ENST00000699822.1:c.*552T>C	ENSP00000514623.1:n.*552T>C
ENST00000699823.1:c.695T>C	ENSP00000514624.1:p.Val232Ala
ENST00000699824.1:c.*603T>C	ENSP00000514625.1:n.*603T>C
ENST00000699825.1:c.583+2129T>C	ENSP00000514626.1:n.583+2129T>C
ENST00000699826.1:c.*499T>C	ENSP00000514627.1:n.*499T>C
ENST00000699827.1:c.932T>C	ENSP00000514628.1:p.Val311Ala
ENST00000699828.1:c.*190T>C	ENSP00000514629.1:n.*190T>C
ENST00000699829.1:c.*601T>C	ENSP00000514630.1:n.*601T>C
ENST00000699830.1:c.*499T>C	ENSP00000514631.1:n.*499T>C
ENST00000699833.1:n.2872T>C
ENST00000699837.1:c.695T>C	ENSP00000514635.1:p.Val232Ala
ENST00000699838.1:c.*1000T>C	ENSP00000514636.1:n.*1000T>C
ENST00000699839.1:c.1286T>C	ENSP00000514637.1:p.Val429Ala
ENST00000699840.1:c.1097T>C	ENSP00000514638.1:p.Val366Ala
ENST00000699916.1:c.*357T>C	ENSP00000514684.1:n.*357T>C
ENST00000699917.1:c.*549T>C	ENSP00000514685.1:n.*549T>C
ENST00000699918.1:c.*601T>C	ENSP00000514686.1:n.*601T>C
ENST00000699919.1:c.*687T>C	ENSP00000514687.1:n.*687T>C
ENST00000699920.1:c.*736T>C	ENSP00000514688.1:n.*736T>C
ENST00000699928.1:c.988+2129T>C	ENSP00000514693.1:n.988+2129T>C
ENST00000699929.1:c.*401T>C	ENSP00000514694.1:n.*401T>C
ENST00000699930.1:c.992T>C	ENSP00000514695.1:p.Val331Ala
ENST00000699931.1:n.2528T>C
ENST00000699932.1:c.*318T>C	ENSP00000514696.1:n.*318T>C
ENST00000699933.1:n.1080T>C
ENST00000699951.1:c.*196T>C	ENSP00000514706.1:n.*196T>C
ENST00000699952.1:c.803+7482T>C	ENSP00000514707.1:n.803+7482T>C
ENST00000699953.1:c.*207T>C	ENSP00000514708.1:n.*207T>C
ENST00000699954.1:c.*401T>C	ENSP00000514709.1:n.*401T>C
ENST00000265849.12:c.1100T>C MANE Select	ENSP00000265849.7:p.Val367Ala
ENST00000642292.1:c.695T>C	ENSP00000495524.1:p.Val232Ala
ENST00000642456.1:c.695T>C	ENSP00000493814.1:p.Val232Ala
ENST00000643595.1:c.*499T>C	ENSP00000494497.1:n.*499T>C
ENST00000644110.1:c.782T>C	ENSP00000496392.1:p.Val261Ala
ENST00000265849.11:c.1100T>C	ENSP00000265849.7:p.Val367Ala
ENST00000382321.5:c.804-6853T>C	ENSP00000371758.4:n.804-6853T>C
ENST00000406569.7:n.1100T>C
ENST00000441476.6:c.782T>C	ENSP00000392843.2:p.Val261Ala
ENST00000469652.1:n.63-6939T>C
NM_000535.5:c.1100T>C , LRG_161t1:c.1100T>C	NP_000526.1:p.Val367Ala
NR_003085.2:n.1182T>C
XM_006715742.2:c.1094T>C	XP_006715805.1:p.Val365Ala
XM_006715744.2:c.167T>C	XP_006715807.1:p.Val56Ala
XM_011515427.1:c.1145T>C	XP_011513729.1:p.Val382Ala
XM_011515428.1:c.1033+2129T>C	XP_011513730.1:n.1033+2129T>C
XM_011515429.1:c.782T>C	XP_011513731.1:p.Val261Ala
XM_011515430.1:c.782T>C	XP_011513732.1:p.Val261Ala
NM_000535.6:c.1100T>C	NP_000526.2:p.Val367Ala
NM_001322003.1:c.695T>C	NP_001308932.1:p.Val232Ala
NM_001322004.1:c.695T>C	NP_001308933.1:p.Val232Ala
NM_001322005.1:c.695T>C	NP_001308934.1:p.Val232Ala
NM_001322006.1:c.988+2129T>C	NP_001308935.1:n.988+2129T>C
NM_001322007.1:c.782T>C	NP_001308936.1:p.Val261Ala
NM_001322008.1:c.782T>C	NP_001308937.1:p.Val261Ala
NM_001322009.1:c.695T>C	NP_001308938.1:p.Val232Ala
NM_001322010.1:c.583+2129T>C	NP_001308939.1:n.583+2129T>C
NM_001322011.1:c.167T>C	NP_001308940.1:p.Val56Ala
NM_001322012.1:c.167T>C	NP_001308941.1:p.Val56Ala
NM_001322013.1:c.527T>C	NP_001308942.1:p.Val176Ala
NM_001322014.1:c.1100T>C	NP_001308943.1:p.Val367Ala
NM_001322015.1:c.791T>C	NP_001308944.1:p.Val264Ala
NR_136154.1:n.1187T>C
XM_006715744.4:c.167T>C	XP_006715807.1:p.Val56Ala
XM_017012342.2:c.167T>C	XP_016867831.1:p.Val56Ala
XM_024446800.1:c.583+2129T>C	XP_024302568.1:n.583+2129T>C
NM_000535.7:c.1100T>C MANE Select	NP_000526.2:p.Val367Ala
NM_001322003.2:c.695T>C	NP_001308932.1:p.Val232Ala
NM_001322004.2:c.695T>C	NP_001308933.1:p.Val232Ala
NM_001322005.2:c.695T>C	NP_001308934.1:p.Val232Ala
NM_001322006.2:c.988+2129T>C	NP_001308935.1:n.988+2129T>C
NM_001322008.2:c.782T>C	NP_001308937.1:p.Val261Ala
NM_001322009.2:c.695T>C	NP_001308938.1:p.Val232Ala
NM_001322010.2:c.583+2129T>C	NP_001308939.1:n.583+2129T>C
NM_001322011.2:c.167T>C	NP_001308940.1:p.Val56Ala
NM_001322012.2:c.167T>C	NP_001308941.1:p.Val56Ala
NM_001322013.2:c.527T>C	NP_001308942.1:p.Val176Ala
NM_001322014.2:c.1100T>C	NP_001308943.1:p.Val367Ala
NM_001322015.2:c.791T>C	NP_001308944.1:p.Val264Ala
NM_001322007.2:c.782T>C	NP_001308936.1:p.Val261Ala