Canonical Allele Identifier: CA366738167

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1784567
• ClinVar RCV Id: RCV002419596
• dbSNP Id: rs2128704703
• gnomAD v4: 7-5982977-G-A
• MyVariant Identifiers: chr7:g.6022608G>A (hg19) ; chr7:g.5982977G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982977G>A , CM000669.2:g.5982977G>A	GRCh38
NC_000007.13:g.6022608G>A , CM000669.1:g.6022608G>A	GRCh37
NC_000007.12:g.5989134G>A	NCBI36
NG_008466.1:g.31130C>T , LRG_161:g.31130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1417C>T	ENSP00000514615.2:n.*1417C>T
ENST00000699840.2:c.2018C>T	ENSP00000514638.2:p.Ala673Val
ENST00000699930.2:c.1913C>T	ENSP00000514695.2:p.Ala638Val
ENST00000406569.8:c.1678+4110C>T	ENSP00000514464.1:n.1678+4110C>T
ENST00000644110.2:c.*1615C>T	ENSP00000496392.2:n.*1615C>T
ENST00000699752.1:c.1865C>T	ENSP00000514561.1:p.Ala622Val
ENST00000699753.1:c.*1442C>T	ENSP00000514562.1:n.*1442C>T
ENST00000699754.1:c.1823C>T	ENSP00000514563.1:p.Ala608Val
ENST00000699755.1:c.*1420C>T	ENSP00000514564.1:n.*1420C>T
ENST00000699756.1:c.*1608C>T	ENSP00000514565.1:n.*1608C>T
ENST00000699757.1:c.*1278C>T	ENSP00000514566.1:n.*1278C>T
ENST00000699758.1:c.*1278C>T	ENSP00000514567.1:n.*1278C>T
ENST00000699759.1:n.2875C>T
ENST00000699760.1:c.1703C>T	ENSP00000514568.1:p.Ala568Val
ENST00000699761.1:c.1616C>T	ENSP00000514569.1:p.Ala539Val
ENST00000699762.1:c.1448C>T	ENSP00000514570.1:p.Ala483Val
ENST00000699763.1:c.*1111C>T	ENSP00000514571.1:n.*1111C>T
ENST00000699764.1:c.*339C>T	ENSP00000514572.1:n.*339C>T
ENST00000699765.1:c.*1117C>T	ENSP00000514573.1:n.*1117C>T
ENST00000699766.1:c.2021C>T	ENSP00000514574.1:p.Ala674Val
ENST00000699767.1:c.2021C>T	ENSP00000514575.1:p.Ala674Val
ENST00000699768.1:c.2021C>T	ENSP00000514576.1:p.Ala674Val
ENST00000699811.1:c.1616C>T	ENSP00000514614.1:p.Ala539Val
ENST00000699813.1:n.2134C>T
ENST00000699814.1:c.1644C>T
ENST00000699815.1:c.*1552C>T	ENSP00000514616.1:n.*1552C>T
ENST00000699816.1:c.*911C>T	ENSP00000514617.1:n.*911C>T
ENST00000699817.1:c.*1615C>T	ENSP00000514618.1:n.*1615C>T
ENST00000699818.1:c.1616C>T	ENSP00000514619.1:p.Ala539Val
ENST00000699819.1:c.*1178C>T	ENSP00000514620.1:n.*1178C>T
ENST00000699820.1:c.1159C>T	ENSP00000514621.1:p.Gln387Ter
ENST00000699821.1:c.1616C>T	ENSP00000514622.1:p.Ala539Val
ENST00000699822.1:c.*1473C>T	ENSP00000514623.1:n.*1473C>T
ENST00000699823.1:c.1616C>T	ENSP00000514624.1:p.Ala539Val
ENST00000699824.1:c.*1524C>T	ENSP00000514625.1:n.*1524C>T
ENST00000699825.1:c.1460C>T	ENSP00000514626.1:p.Ala487Val
ENST00000699826.1:c.*1420C>T	ENSP00000514627.1:n.*1420C>T
ENST00000699827.1:c.1853C>T	ENSP00000514628.1:p.Ala618Val
ENST00000699828.1:c.*1111C>T	ENSP00000514629.1:n.*1111C>T
ENST00000699833.1:n.3793C>T
ENST00000699837.1:c.1616C>T	ENSP00000514635.1:p.Ala539Val
ENST00000699838.1:c.*1921C>T	ENSP00000514636.1:n.*1921C>T
ENST00000699839.1:c.2207C>T	ENSP00000514637.1:p.Ala736Val
ENST00000699916.1:c.*1278C>T	ENSP00000514684.1:n.*1278C>T
ENST00000699917.1:c.*1470C>T	ENSP00000514685.1:n.*1470C>T
ENST00000699918.1:c.*1522C>T	ENSP00000514686.1:n.*1522C>T
ENST00000699919.1:c.*1608C>T	ENSP00000514687.1:n.*1608C>T
ENST00000699920.1:c.*1657C>T	ENSP00000514688.1:n.*1657C>T
ENST00000699928.1:c.1003C>T	ENSP00000514693.1:p.Gln335Ter
ENST00000699951.1:c.*1117C>T	ENSP00000514706.1:n.*1117C>T
ENST00000699952.1:c.804-9435C>T	ENSP00000514707.1:n.804-9435C>T
ENST00000265849.12:c.2021C>T MANE Select	ENSP00000265849.7:p.Ala674Val
ENST00000642292.1:c.1616C>T	ENSP00000495524.1:p.Ala539Val
ENST00000642456.1:c.1616C>T	ENSP00000493814.1:p.Ala539Val
ENST00000643595.1:c.*1420C>T	ENSP00000494497.1:n.*1420C>T
ENST00000644110.1:c.1703C>T	ENSP00000496392.1:p.Ala568Val
ENST00000265849.11:c.2021C>T	ENSP00000265849.7:p.Ala674Val
ENST00000382321.5:c.818C>T	ENSP00000371758.4:p.Ala273Val
ENST00000406569.7:n.1678+4110C>T
ENST00000441476.6:c.1703C>T	ENSP00000392843.2:p.Ala568Val
ENST00000469652.1:n.63-72C>T
NM_000535.5:c.2021C>T , LRG_161t1:c.2021C>T	NP_000526.1:p.Ala674Val
NR_003085.2:n.2103C>T
XM_006715742.2:c.2015C>T	XP_006715805.1:p.Ala672Val
XM_006715744.2:c.1088C>T	XP_006715807.1:p.Ala363Val
XM_011515427.1:c.2066C>T	XP_011513729.1:p.Ala689Val
XM_011515428.1:c.1910C>T	XP_011513730.1:p.Ala637Val
XM_011515429.1:c.1703C>T	XP_011513731.1:p.Ala568Val
XM_011515430.1:c.1703C>T	XP_011513732.1:p.Ala568Val
NM_000535.6:c.2021C>T	NP_000526.2:p.Ala674Val
NM_001322003.1:c.1616C>T	NP_001308932.1:p.Ala539Val
NM_001322004.1:c.1616C>T	NP_001308933.1:p.Ala539Val
NM_001322005.1:c.1616C>T	NP_001308934.1:p.Ala539Val
NM_001322006.1:c.1865C>T	NP_001308935.1:p.Ala622Val
NM_001322007.1:c.1703C>T	NP_001308936.1:p.Ala568Val
NM_001322008.1:c.1703C>T	NP_001308937.1:p.Ala568Val
NM_001322009.1:c.1616C>T	NP_001308938.1:p.Ala539Val
NM_001322010.1:c.1460C>T	NP_001308939.1:p.Ala487Val
NM_001322011.1:c.1088C>T	NP_001308940.1:p.Ala363Val
NM_001322012.1:c.1088C>T	NP_001308941.1:p.Ala363Val
NM_001322013.1:c.1448C>T	NP_001308942.1:p.Ala483Val
NM_001322014.1:c.2021C>T	NP_001308943.1:p.Ala674Val
NM_001322015.1:c.1712C>T	NP_001308944.1:p.Ala571Val
NR_136154.1:n.2108C>T
XM_006715744.4:c.1088C>T	XP_006715807.1:p.Ala363Val
XM_017012342.2:c.1088C>T	XP_016867831.1:p.Ala363Val
XM_024446800.1:c.1460C>T	XP_024302568.1:p.Ala487Val
NM_000535.7:c.2021C>T MANE Select	NP_000526.2:p.Ala674Val
NM_001322003.2:c.1616C>T	NP_001308932.1:p.Ala539Val
NM_001322004.2:c.1616C>T	NP_001308933.1:p.Ala539Val
NM_001322005.2:c.1616C>T	NP_001308934.1:p.Ala539Val
NM_001322006.2:c.1865C>T	NP_001308935.1:p.Ala622Val
NM_001322008.2:c.1703C>T	NP_001308937.1:p.Ala568Val
NM_001322009.2:c.1616C>T	NP_001308938.1:p.Ala539Val
NM_001322010.2:c.1460C>T	NP_001308939.1:p.Ala487Val
NM_001322011.2:c.1088C>T	NP_001308940.1:p.Ala363Val
NM_001322012.2:c.1088C>T	NP_001308941.1:p.Ala363Val
NM_001322013.2:c.1448C>T	NP_001308942.1:p.Ala483Val
NM_001322014.2:c.2021C>T	NP_001308943.1:p.Ala674Val
NM_001322015.2:c.1712C>T	NP_001308944.1:p.Ala571Val
NM_001322007.2:c.1703C>T	NP_001308936.1:p.Ala568Val