Canonical Allele Identifier: CA453643282

Gene: PMS2

Linked Data

• ClinVar Variation Id: 509816
• ClinVar RCV Id: RCV000613664
• dbSNP Id: rs1554295833
• gnomAD v4: 7-5982898-C-T
• MyVariant Identifiers: chr7:g.6022529C>T (hg19) ; chr7:g.5982898C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982898C>T , CM000669.2:g.5982898C>T	GRCh38
NC_000007.13:g.6022529C>T , CM000669.1:g.6022529C>T	GRCh37
NC_000007.12:g.5989055C>T	NCBI36
NG_008466.1:g.31209G>A , LRG_161:g.31209G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1496G>A	ENSP00000514615.2:n.*1496G>A
ENST00000699840.2:c.2097G>A	ENSP00000514638.2:p.Gln699=
ENST00000699930.2:c.1992G>A	ENSP00000514695.2:p.Gln664=
ENST00000406569.8:c.1678+4189G>A	ENSP00000514464.1:n.1678+4189G>A
ENST00000644110.2:c.*1694G>A	ENSP00000496392.2:n.*1694G>A
ENST00000699752.1:c.1944G>A	ENSP00000514561.1:p.Gln648=
ENST00000699753.1:c.*1521G>A	ENSP00000514562.1:n.*1521G>A
ENST00000699754.1:c.1902G>A	ENSP00000514563.1:p.Gln634=
ENST00000699755.1:c.*1499G>A	ENSP00000514564.1:n.*1499G>A
ENST00000699756.1:c.*1687G>A	ENSP00000514565.1:n.*1687G>A
ENST00000699757.1:c.*1357G>A	ENSP00000514566.1:n.*1357G>A
ENST00000699758.1:c.*1357G>A	ENSP00000514567.1:n.*1357G>A
ENST00000699759.1:n.2954G>A
ENST00000699760.1:c.1782G>A	ENSP00000514568.1:p.Gln594=
ENST00000699761.1:c.1695G>A	ENSP00000514569.1:p.Gln565=
ENST00000699762.1:c.1527G>A	ENSP00000514570.1:p.Gln509=
ENST00000699763.1:c.*1190G>A	ENSP00000514571.1:n.*1190G>A
ENST00000699764.1:c.*418G>A	ENSP00000514572.1:n.*418G>A
ENST00000699765.1:c.*1196G>A	ENSP00000514573.1:n.*1196G>A
ENST00000699766.1:c.2100G>A	ENSP00000514574.1:p.Gln700=
ENST00000699767.1:c.2100G>A	ENSP00000514575.1:p.Gln700=
ENST00000699768.1:c.2100G>A	ENSP00000514576.1:p.Gln700=
ENST00000699811.1:c.1695G>A	ENSP00000514614.1:p.Gln565=
ENST00000699813.1:n.2213G>A
ENST00000699814.1:c.1723G>A
ENST00000699815.1:c.*1631G>A	ENSP00000514616.1:n.*1631G>A
ENST00000699816.1:c.*990G>A	ENSP00000514617.1:n.*990G>A
ENST00000699817.1:c.*1694G>A	ENSP00000514618.1:n.*1694G>A
ENST00000699818.1:c.1695G>A	ENSP00000514619.1:p.Gln565=
ENST00000699819.1:c.*1257G>A	ENSP00000514620.1:n.*1257G>A
ENST00000699820.1:c.*38G>A	ENSP00000514621.1:n.*38G>A
ENST00000699821.1:c.1695G>A	ENSP00000514622.1:p.Gln565=
ENST00000699822.1:c.*1552G>A	ENSP00000514623.1:n.*1552G>A
ENST00000699823.1:c.1695G>A	ENSP00000514624.1:p.Gln565=
ENST00000699824.1:c.*1603G>A	ENSP00000514625.1:n.*1603G>A
ENST00000699825.1:c.1539G>A	ENSP00000514626.1:p.Gln513=
ENST00000699826.1:c.*1499G>A	ENSP00000514627.1:n.*1499G>A
ENST00000699827.1:c.1932G>A	ENSP00000514628.1:p.Gln644=
ENST00000699828.1:c.*1190G>A	ENSP00000514629.1:n.*1190G>A
ENST00000699833.1:n.3872G>A
ENST00000699837.1:c.1695G>A	ENSP00000514635.1:p.Gln565=
ENST00000699838.1:c.*2000G>A	ENSP00000514636.1:n.*2000G>A
ENST00000699839.1:c.2286G>A	ENSP00000514637.1:p.Gln762=
ENST00000699916.1:c.*1357G>A	ENSP00000514684.1:n.*1357G>A
ENST00000699917.1:c.*1549G>A	ENSP00000514685.1:n.*1549G>A
ENST00000699918.1:c.*1601G>A	ENSP00000514686.1:n.*1601G>A
ENST00000699919.1:c.*1687G>A	ENSP00000514687.1:n.*1687G>A
ENST00000699920.1:c.*1736G>A	ENSP00000514688.1:n.*1736G>A
ENST00000699928.1:c.*38G>A	ENSP00000514693.1:n.*38G>A
ENST00000699951.1:c.*1196G>A	ENSP00000514706.1:n.*1196G>A
ENST00000699952.1:c.804-9356G>A	ENSP00000514707.1:n.804-9356G>A
ENST00000265849.12:c.2100G>A MANE Select	ENSP00000265849.7:p.Gln700=
ENST00000642292.1:c.1695G>A	ENSP00000495524.1:p.Gln565=
ENST00000642456.1:c.1695G>A	ENSP00000493814.1:p.Gln565=
ENST00000643595.1:c.*1499G>A	ENSP00000494497.1:n.*1499G>A
ENST00000644110.1:c.1782G>A	ENSP00000496392.1:p.Gln594=
ENST00000265849.11:c.2100G>A	ENSP00000265849.7:p.Gln700=
ENST00000382321.5:c.897G>A	ENSP00000371758.4:p.Gln299=
ENST00000406569.7:n.1678+4189G>A
ENST00000441476.6:c.1782G>A	ENSP00000392843.2:p.Gln594=
ENST00000469652.1:n.70G>A
NM_000535.5:c.2100G>A , LRG_161t1:c.2100G>A	NP_000526.1:p.Gln700=
NR_003085.2:n.2182G>A
XM_006715742.2:c.2094G>A	XP_006715805.1:p.Gln698=
XM_006715744.2:c.1167G>A	XP_006715807.1:p.Gln389=
XM_011515427.1:c.2145G>A	XP_011513729.1:p.Gln715=
XM_011515428.1:c.1989G>A	XP_011513730.1:p.Gln663=
XM_011515429.1:c.1782G>A	XP_011513731.1:p.Gln594=
XM_011515430.1:c.1782G>A	XP_011513732.1:p.Gln594=
NM_000535.6:c.2100G>A	NP_000526.2:p.Gln700=
NM_001322003.1:c.1695G>A	NP_001308932.1:p.Gln565=
NM_001322004.1:c.1695G>A	NP_001308933.1:p.Gln565=
NM_001322005.1:c.1695G>A	NP_001308934.1:p.Gln565=
NM_001322006.1:c.1944G>A	NP_001308935.1:p.Gln648=
NM_001322007.1:c.1782G>A	NP_001308936.1:p.Gln594=
NM_001322008.1:c.1782G>A	NP_001308937.1:p.Gln594=
NM_001322009.1:c.1695G>A	NP_001308938.1:p.Gln565=
NM_001322010.1:c.1539G>A	NP_001308939.1:p.Gln513=
NM_001322011.1:c.1167G>A	NP_001308940.1:p.Gln389=
NM_001322012.1:c.1167G>A	NP_001308941.1:p.Gln389=
NM_001322013.1:c.1527G>A	NP_001308942.1:p.Gln509=
NM_001322014.1:c.2100G>A	NP_001308943.1:p.Gln700=
NM_001322015.1:c.1791G>A	NP_001308944.1:p.Gln597=
NR_136154.1:n.2187G>A
XM_006715744.4:c.1167G>A	XP_006715807.1:p.Gln389=
XM_017012342.2:c.1167G>A	XP_016867831.1:p.Gln389=
XM_024446800.1:c.1539G>A	XP_024302568.1:p.Gln513=
NM_000535.7:c.2100G>A MANE Select	NP_000526.2:p.Gln700=
NM_001322003.2:c.1695G>A	NP_001308932.1:p.Gln565=
NM_001322004.2:c.1695G>A	NP_001308933.1:p.Gln565=
NM_001322005.2:c.1695G>A	NP_001308934.1:p.Gln565=
NM_001322006.2:c.1944G>A	NP_001308935.1:p.Gln648=
NM_001322008.2:c.1782G>A	NP_001308937.1:p.Gln594=
NM_001322009.2:c.1695G>A	NP_001308938.1:p.Gln565=
NM_001322010.2:c.1539G>A	NP_001308939.1:p.Gln513=
NM_001322011.2:c.1167G>A	NP_001308940.1:p.Gln389=
NM_001322012.2:c.1167G>A	NP_001308941.1:p.Gln389=
NM_001322013.2:c.1527G>A	NP_001308942.1:p.Gln509=
NM_001322014.2:c.2100G>A	NP_001308943.1:p.Gln700=
NM_001322015.2:c.1791G>A	NP_001308944.1:p.Gln597=
NM_001322007.2:c.1782G>A	NP_001308936.1:p.Gln594=