Canonical Allele Identifier: CA366737986

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1785975
• ClinVar RCV Id: RCV002424287
• COSMIC: COSM1091073
• MyVariant Identifiers: chr7:g.6022524G>T (hg19) ; chr7:g.5982893G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982893G>T , CM000669.2:g.5982893G>T	GRCh38
NC_000007.13:g.6022524G>T , CM000669.1:g.6022524G>T	GRCh37
NC_000007.12:g.5989050G>T	NCBI36
NG_008466.1:g.31214C>A , LRG_161:g.31214C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1501C>A	ENSP00000514615.2:n.*1501C>A
ENST00000699840.2:c.2102C>A	ENSP00000514638.2:p.Ala701Asp
ENST00000699930.2:c.1997C>A	ENSP00000514695.2:p.Ala666Asp
ENST00000406569.8:c.1678+4194C>A	ENSP00000514464.1:n.1678+4194C>A
ENST00000644110.2:c.*1699C>A	ENSP00000496392.2:n.*1699C>A
ENST00000699752.1:c.1949C>A	ENSP00000514561.1:p.Ala650Asp
ENST00000699753.1:c.*1526C>A	ENSP00000514562.1:n.*1526C>A
ENST00000699754.1:c.1907C>A	ENSP00000514563.1:p.Ala636Asp
ENST00000699755.1:c.*1504C>A	ENSP00000514564.1:n.*1504C>A
ENST00000699756.1:c.*1692C>A	ENSP00000514565.1:n.*1692C>A
ENST00000699757.1:c.*1362C>A	ENSP00000514566.1:n.*1362C>A
ENST00000699758.1:c.*1362C>A	ENSP00000514567.1:n.*1362C>A
ENST00000699759.1:n.2959C>A
ENST00000699760.1:c.1787C>A	ENSP00000514568.1:p.Ala596Asp
ENST00000699761.1:c.1700C>A	ENSP00000514569.1:p.Ala567Asp
ENST00000699762.1:c.1532C>A	ENSP00000514570.1:p.Ala511Asp
ENST00000699763.1:c.*1195C>A	ENSP00000514571.1:n.*1195C>A
ENST00000699764.1:c.*423C>A	ENSP00000514572.1:n.*423C>A
ENST00000699765.1:c.*1201C>A	ENSP00000514573.1:n.*1201C>A
ENST00000699766.1:c.2105C>A	ENSP00000514574.1:p.Ala702Asp
ENST00000699767.1:c.2105C>A	ENSP00000514575.1:p.Ala702Asp
ENST00000699768.1:c.2105C>A	ENSP00000514576.1:p.Ala702Asp
ENST00000699811.1:c.1700C>A	ENSP00000514614.1:p.Ala567Asp
ENST00000699813.1:n.2218C>A
ENST00000699814.1:c.1728C>A
ENST00000699815.1:c.*1636C>A	ENSP00000514616.1:n.*1636C>A
ENST00000699816.1:c.*995C>A	ENSP00000514617.1:n.*995C>A
ENST00000699817.1:c.*1699C>A	ENSP00000514618.1:n.*1699C>A
ENST00000699818.1:c.1700C>A	ENSP00000514619.1:p.Ala567Asp
ENST00000699819.1:c.*1262C>A	ENSP00000514620.1:n.*1262C>A
ENST00000699820.1:c.*43C>A	ENSP00000514621.1:n.*43C>A
ENST00000699821.1:c.1700C>A	ENSP00000514622.1:p.Ala567Asp
ENST00000699822.1:c.*1557C>A	ENSP00000514623.1:n.*1557C>A
ENST00000699823.1:c.1700C>A	ENSP00000514624.1:p.Ala567Asp
ENST00000699824.1:c.*1608C>A	ENSP00000514625.1:n.*1608C>A
ENST00000699825.1:c.1544C>A	ENSP00000514626.1:p.Ala515Asp
ENST00000699826.1:c.*1504C>A	ENSP00000514627.1:n.*1504C>A
ENST00000699827.1:c.1937C>A	ENSP00000514628.1:p.Ala646Asp
ENST00000699828.1:c.*1195C>A	ENSP00000514629.1:n.*1195C>A
ENST00000699833.1:n.3877C>A
ENST00000699837.1:c.1700C>A	ENSP00000514635.1:p.Ala567Asp
ENST00000699838.1:c.*2005C>A	ENSP00000514636.1:n.*2005C>A
ENST00000699839.1:c.2291C>A	ENSP00000514637.1:p.Ala764Asp
ENST00000699916.1:c.*1362C>A	ENSP00000514684.1:n.*1362C>A
ENST00000699917.1:c.*1554C>A	ENSP00000514685.1:n.*1554C>A
ENST00000699918.1:c.*1606C>A	ENSP00000514686.1:n.*1606C>A
ENST00000699919.1:c.*1692C>A	ENSP00000514687.1:n.*1692C>A
ENST00000699920.1:c.*1741C>A	ENSP00000514688.1:n.*1741C>A
ENST00000699928.1:c.*43C>A	ENSP00000514693.1:n.*43C>A
ENST00000699951.1:c.*1201C>A	ENSP00000514706.1:n.*1201C>A
ENST00000699952.1:c.804-9351C>A	ENSP00000514707.1:n.804-9351C>A
ENST00000265849.12:c.2105C>A MANE Select	ENSP00000265849.7:p.Ala702Asp
ENST00000642292.1:c.1700C>A	ENSP00000495524.1:p.Ala567Asp
ENST00000642456.1:c.1700C>A	ENSP00000493814.1:p.Ala567Asp
ENST00000643595.1:c.*1504C>A	ENSP00000494497.1:n.*1504C>A
ENST00000644110.1:c.1787C>A	ENSP00000496392.1:p.Ala596Asp
ENST00000265849.11:c.2105C>A	ENSP00000265849.7:p.Ala702Asp
ENST00000382321.5:c.902C>A	ENSP00000371758.4:p.Ala301Asp
ENST00000406569.7:n.1678+4194C>A
ENST00000441476.6:c.1787C>A	ENSP00000392843.2:p.Ala596Asp
ENST00000469652.1:n.75C>A
NM_000535.5:c.2105C>A , LRG_161t1:c.2105C>A	NP_000526.1:p.Ala702Asp
NR_003085.2:n.2187C>A
XM_006715742.2:c.2099C>A	XP_006715805.1:p.Ala700Asp
XM_006715744.2:c.1172C>A	XP_006715807.1:p.Ala391Asp
XM_011515427.1:c.2150C>A	XP_011513729.1:p.Ala717Asp
XM_011515428.1:c.1994C>A	XP_011513730.1:p.Ala665Asp
XM_011515429.1:c.1787C>A	XP_011513731.1:p.Ala596Asp
XM_011515430.1:c.1787C>A	XP_011513732.1:p.Ala596Asp
NM_000535.6:c.2105C>A	NP_000526.2:p.Ala702Asp
NM_001322003.1:c.1700C>A	NP_001308932.1:p.Ala567Asp
NM_001322004.1:c.1700C>A	NP_001308933.1:p.Ala567Asp
NM_001322005.1:c.1700C>A	NP_001308934.1:p.Ala567Asp
NM_001322006.1:c.1949C>A	NP_001308935.1:p.Ala650Asp
NM_001322007.1:c.1787C>A	NP_001308936.1:p.Ala596Asp
NM_001322008.1:c.1787C>A	NP_001308937.1:p.Ala596Asp
NM_001322009.1:c.1700C>A	NP_001308938.1:p.Ala567Asp
NM_001322010.1:c.1544C>A	NP_001308939.1:p.Ala515Asp
NM_001322011.1:c.1172C>A	NP_001308940.1:p.Ala391Asp
NM_001322012.1:c.1172C>A	NP_001308941.1:p.Ala391Asp
NM_001322013.1:c.1532C>A	NP_001308942.1:p.Ala511Asp
NM_001322014.1:c.2105C>A	NP_001308943.1:p.Ala702Asp
NM_001322015.1:c.1796C>A	NP_001308944.1:p.Ala599Asp
NR_136154.1:n.2192C>A
XM_006715744.4:c.1172C>A	XP_006715807.1:p.Ala391Asp
XM_017012342.2:c.1172C>A	XP_016867831.1:p.Ala391Asp
XM_024446800.1:c.1544C>A	XP_024302568.1:p.Ala515Asp
NM_000535.7:c.2105C>A MANE Select	NP_000526.2:p.Ala702Asp
NM_001322003.2:c.1700C>A	NP_001308932.1:p.Ala567Asp
NM_001322004.2:c.1700C>A	NP_001308933.1:p.Ala567Asp
NM_001322005.2:c.1700C>A	NP_001308934.1:p.Ala567Asp
NM_001322006.2:c.1949C>A	NP_001308935.1:p.Ala650Asp
NM_001322008.2:c.1787C>A	NP_001308937.1:p.Ala596Asp
NM_001322009.2:c.1700C>A	NP_001308938.1:p.Ala567Asp
NM_001322010.2:c.1544C>A	NP_001308939.1:p.Ala515Asp
NM_001322011.2:c.1172C>A	NP_001308940.1:p.Ala391Asp
NM_001322012.2:c.1172C>A	NP_001308941.1:p.Ala391Asp
NM_001322013.2:c.1532C>A	NP_001308942.1:p.Ala511Asp
NM_001322014.2:c.2105C>A	NP_001308943.1:p.Ala702Asp
NM_001322015.2:c.1796C>A	NP_001308944.1:p.Ala599Asp
NM_001322007.2:c.1787C>A	NP_001308936.1:p.Ala596Asp