Canonical Allele Identifier: CA366735825
Gene: PMS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.6017300G>T (hg19) chr7:g.5977669G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5977669G>T , CM000669.2:g.5977669G>T GRCh38
NC_000007.13:g.6017300G>T , CM000669.1:g.6017300G>T GRCh37
NC_000007.12:g.5983826G>T NCBI36
NG_008466.1:g.36438C>A , LRG_161:g.36438C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1760C>A ENSP00000514615.2:n.*1760C>A
ENST00000699840.2:c.2361C>A ENSP00000514638.2:p.Phe787Leu
ENST00000699930.2:c.2256C>A ENSP00000514695.2:p.Phe752Leu
ENST00000406569.8:c.1724C>A ENSP00000514464.1:n.1724C>A
ENST00000644110.2:c.*1958C>A ENSP00000496392.2:n.*1958C>A
ENST00000699752.1:c.2208C>A ENSP00000514561.1:p.Phe736Leu
ENST00000699753.1:c.*1785C>A ENSP00000514562.1:n.*1785C>A
ENST00000699754.1:c.2166C>A ENSP00000514563.1:p.Phe722Leu
ENST00000699755.1:c.*1763C>A ENSP00000514564.1:n.*1763C>A
ENST00000699756.1:c.*1951C>A ENSP00000514565.1:n.*1951C>A
ENST00000699757.1:c.*1621C>A ENSP00000514566.1:n.*1621C>A
ENST00000699758.1:c.*1621C>A ENSP00000514567.1:n.*1621C>A
ENST00000699759.1:n.3218C>A
ENST00000699760.1:c.2046C>A ENSP00000514568.1:p.Phe682Leu
ENST00000699761.1:c.1959C>A ENSP00000514569.1:p.Phe653Leu
ENST00000699762.1:c.1791C>A ENSP00000514570.1:p.Phe597Leu
ENST00000699763.1:c.*1454C>A ENSP00000514571.1:n.*1454C>A
ENST00000699764.1:c.*682C>A ENSP00000514572.1:n.*682C>A
ENST00000699765.1:c.*1359C>A ENSP00000514573.1:n.*1359C>A
ENST00000699766.1:c.2397C>A ENSP00000514574.1:p.Phe799Leu
ENST00000699767.1:c.*5C>A ENSP00000514575.1:n.*5C>A
ENST00000699768.1:c.2220C>A ENSP00000514576.1:p.Phe740Leu
ENST00000699811.1:c.1959C>A ENSP00000514614.1:p.Phe653Leu
ENST00000699813.1:n.2477C>A
ENST00000699814.1:c.1987C>A
ENST00000699815.1:c.*1895C>A ENSP00000514616.1:n.*1895C>A
ENST00000699816.1:c.*1254C>A ENSP00000514617.1:n.*1254C>A
ENST00000699817.1:c.*1958C>A ENSP00000514618.1:n.*1958C>A
ENST00000699818.1:c.1959C>A ENSP00000514619.1:p.Phe653Leu
ENST00000699819.1:c.*1521C>A ENSP00000514620.1:n.*1521C>A
ENST00000699820.1:c.*302C>A ENSP00000514621.1:n.*302C>A
ENST00000699821.1:c.1992C>A ENSP00000514622.1:p.Phe664Leu
ENST00000699822.1:c.*1816C>A ENSP00000514623.1:n.*1816C>A
ENST00000699823.1:c.1959C>A ENSP00000514624.1:p.Phe653Leu
ENST00000699824.1:c.*1867C>A ENSP00000514625.1:n.*1867C>A
ENST00000699825.1:c.1803C>A ENSP00000514626.1:p.Phe601Leu
ENST00000699826.1:c.*1763C>A ENSP00000514627.1:n.*1763C>A
ENST00000699827.1:c.2196C>A ENSP00000514628.1:p.Phe732Leu
ENST00000699828.1:c.*1454C>A ENSP00000514629.1:n.*1454C>A
ENST00000699833.1:n.4136C>A
ENST00000699837.1:c.1959C>A ENSP00000514635.1:p.Phe653Leu
ENST00000699838.1:c.*2264C>A ENSP00000514636.1:n.*2264C>A
ENST00000699839.1:c.2550C>A ENSP00000514637.1:p.Phe850Leu
ENST00000699916.1:c.*1621C>A ENSP00000514684.1:n.*1621C>A
ENST00000699917.1:c.*1813C>A ENSP00000514685.1:n.*1813C>A
ENST00000699918.1:c.*1865C>A ENSP00000514686.1:n.*1865C>A
ENST00000699919.1:c.*1951C>A ENSP00000514687.1:n.*1951C>A
ENST00000699920.1:c.*2000C>A ENSP00000514688.1:n.*2000C>A
ENST00000699928.1:c.*302C>A ENSP00000514693.1:n.*302C>A
ENST00000699951.1:c.*1417C>A ENSP00000514706.1:n.*1417C>A
ENST00000699952.1:c.804-4127C>A ENSP00000514707.1:n.804-4127C>A
ENST00000265849.12:c.2364C>A MANE Select ENSP00000265849.7:p.Phe788Leu
ENST00000642292.1:c.1959C>A ENSP00000495524.1:p.Phe653Leu
ENST00000642456.1:c.1959C>A ENSP00000493814.1:p.Phe653Leu
ENST00000643595.1:c.*1763C>A ENSP00000494497.1:n.*1763C>A
ENST00000644110.1:c.2046C>A ENSP00000496392.1:p.Phe682Leu
ENST00000265849.11:c.2364C>A ENSP00000265849.7:p.Phe788Leu
ENST00000382321.5:c.1161C>A ENSP00000371758.4:p.Phe387Leu
ENST00000441476.6:c.2046C>A ENSP00000392843.2:p.Phe682Leu
NM_000535.5:c.2364C>A , LRG_161t1:c.2364C>A NP_000526.1:p.Phe788Leu
NR_003085.2:n.2446C>A
XM_006715742.2:c.2358C>A XP_006715805.1:p.Phe786Leu
XM_006715744.2:c.1431C>A XP_006715807.1:p.Phe477Leu
XM_011515427.1:c.2409C>A XP_011513729.1:p.Phe803Leu
XM_011515428.1:c.2253C>A XP_011513730.1:p.Phe751Leu
XM_011515429.1:c.2046C>A XP_011513731.1:p.Phe682Leu
XM_011515430.1:c.2046C>A XP_011513732.1:p.Phe682Leu
NM_000535.6:c.2364C>A NP_000526.2:p.Phe788Leu
NM_001322003.1:c.1959C>A NP_001308932.1:p.Phe653Leu
NM_001322004.1:c.1959C>A NP_001308933.1:p.Phe653Leu
NM_001322005.1:c.1959C>A NP_001308934.1:p.Phe653Leu
NM_001322006.1:c.2208C>A NP_001308935.1:p.Phe736Leu
NM_001322007.1:c.2046C>A NP_001308936.1:p.Phe682Leu
NM_001322008.1:c.2046C>A NP_001308937.1:p.Phe682Leu
NM_001322009.1:c.1992C>A NP_001308938.1:p.Phe664Leu
NM_001322010.1:c.1803C>A NP_001308939.1:p.Phe601Leu
NM_001322011.1:c.1431C>A NP_001308940.1:p.Phe477Leu
NM_001322012.1:c.1431C>A NP_001308941.1:p.Phe477Leu
NM_001322013.1:c.1791C>A NP_001308942.1:p.Phe597Leu
NM_001322014.1:c.2397C>A NP_001308943.1:p.Phe799Leu
NM_001322015.1:c.2055C>A NP_001308944.1:p.Phe685Leu
NR_136154.1:n.2408C>A
XM_006715744.4:c.1431C>A XP_006715807.1:p.Phe477Leu
XM_017012342.2:c.1431C>A XP_016867831.1:p.Phe477Leu
XM_024446800.1:c.1803C>A XP_024302568.1:p.Phe601Leu
NM_000535.7:c.2364C>A MANE Select NP_000526.2:p.Phe788Leu
NM_001322003.2:c.1959C>A NP_001308932.1:p.Phe653Leu
NM_001322004.2:c.1959C>A NP_001308933.1:p.Phe653Leu
NM_001322005.2:c.1959C>A NP_001308934.1:p.Phe653Leu
NM_001322006.2:c.2208C>A NP_001308935.1:p.Phe736Leu
NM_001322008.2:c.2046C>A NP_001308937.1:p.Phe682Leu
NM_001322009.2:c.1992C>A NP_001308938.1:p.Phe664Leu
NM_001322010.2:c.1803C>A NP_001308939.1:p.Phe601Leu
NM_001322011.2:c.1431C>A NP_001308940.1:p.Phe477Leu
NM_001322012.2:c.1431C>A NP_001308941.1:p.Phe477Leu
NM_001322013.2:c.1791C>A NP_001308942.1:p.Phe597Leu
NM_001322014.2:c.2397C>A NP_001308943.1:p.Phe799Leu
NM_001322015.2:c.2055C>A NP_001308944.1:p.Phe685Leu
NM_001322007.2:c.2046C>A NP_001308936.1:p.Phe682Leu
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