Canonical Allele Identifier: CA840180161
Gene: PMS2 HGNC NCBI

Linked Data

dbSNP Id: rs1300905036
gnomAD v3: 7-5977519-G-A
gnomAD v4: 7-5977519-G-A
MyVariant Identifiers: chr7:g.6017150G>A (hg19) chr7:g.5977519G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5977519G>A , CM000669.2:g.5977519G>A GRCh38
NC_000007.13:g.6017150G>A , CM000669.1:g.6017150G>A GRCh37
NC_000007.12:g.5983676G>A NCBI36
NG_008466.1:g.36588C>T , LRG_161:g.36588C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1841+69C>T ENSP00000514615.2:n.*1841+69C>T
ENST00000699840.2:c.2442+69C>T ENSP00000514638.2:n.2442+69C>T
ENST00000699930.2:c.2337+69C>T ENSP00000514695.2:n.2337+69C>T
ENST00000406569.8:c.1805+69C>T ENSP00000514464.1:n.1805+69C>T
ENST00000644110.2:c.*2039+69C>T ENSP00000496392.2:n.*2039+69C>T
ENST00000699752.1:c.2289+69C>T ENSP00000514561.1:n.2289+69C>T
ENST00000699753.1:c.*1866+69C>T ENSP00000514562.1:n.*1866+69C>T
ENST00000699754.1:c.2247+69C>T ENSP00000514563.1:n.2247+69C>T
ENST00000699755.1:c.*1844+69C>T ENSP00000514564.1:n.*1844+69C>T
ENST00000699756.1:c.*2032+69C>T ENSP00000514565.1:n.*2032+69C>T
ENST00000699757.1:c.*1702+69C>T ENSP00000514566.1:n.*1702+69C>T
ENST00000699758.1:c.*1702+69C>T ENSP00000514567.1:n.*1702+69C>T
ENST00000699759.1:n.3299+69C>T
ENST00000699760.1:c.2127+69C>T ENSP00000514568.1:n.2127+69C>T
ENST00000699761.1:c.2040+69C>T ENSP00000514569.1:n.2040+69C>T
ENST00000699762.1:c.1872+69C>T ENSP00000514570.1:n.1872+69C>T
ENST00000699763.1:c.*1535+69C>T ENSP00000514571.1:n.*1535+69C>T
ENST00000699764.1:c.*763+69C>T ENSP00000514572.1:n.*763+69C>T
ENST00000699765.1:c.*1440+69C>T ENSP00000514573.1:n.*1440+69C>T
ENST00000699766.1:c.2478+69C>T ENSP00000514574.1:n.2478+69C>T
ENST00000699767.1:c.*86+69C>T ENSP00000514575.1:n.*86+69C>T
ENST00000699768.1:c.2301+69C>T ENSP00000514576.1:n.2301+69C>T
ENST00000699811.1:c.2040+69C>T ENSP00000514614.1:n.2040+69C>T
ENST00000699813.1:n.2558+69C>T
ENST00000699814.1:c.2068+69C>T
ENST00000699815.1:c.*1976+69C>T ENSP00000514616.1:n.*1976+69C>T
ENST00000699816.1:c.*1335+69C>T ENSP00000514617.1:n.*1335+69C>T
ENST00000699817.1:c.*2039+69C>T ENSP00000514618.1:n.*2039+69C>T
ENST00000699818.1:c.2040+69C>T ENSP00000514619.1:n.2040+69C>T
ENST00000699819.1:c.*1602+69C>T ENSP00000514620.1:n.*1602+69C>T
ENST00000699820.1:c.*383+69C>T ENSP00000514621.1:n.*383+69C>T
ENST00000699821.1:c.2073+69C>T ENSP00000514622.1:n.2073+69C>T
ENST00000699822.1:c.*1897+69C>T ENSP00000514623.1:n.*1897+69C>T
ENST00000699823.1:c.2040+69C>T ENSP00000514624.1:n.2040+69C>T
ENST00000699824.1:c.*1948+69C>T ENSP00000514625.1:n.*1948+69C>T
ENST00000699825.1:c.1884+69C>T ENSP00000514626.1:n.1884+69C>T
ENST00000699826.1:c.*1844+69C>T ENSP00000514627.1:n.*1844+69C>T
ENST00000699827.1:c.2277+69C>T ENSP00000514628.1:n.2277+69C>T
ENST00000699828.1:c.*1535+69C>T ENSP00000514629.1:n.*1535+69C>T
ENST00000699833.1:n.4217+69C>T
ENST00000699837.1:c.2040+69C>T ENSP00000514635.1:n.2040+69C>T
ENST00000699838.1:c.*2345+69C>T ENSP00000514636.1:n.*2345+69C>T
ENST00000699839.1:c.2631+69C>T ENSP00000514637.1:n.2631+69C>T
ENST00000699916.1:c.*1702+69C>T ENSP00000514684.1:n.*1702+69C>T
ENST00000699917.1:c.*1894+69C>T ENSP00000514685.1:n.*1894+69C>T
ENST00000699918.1:c.*1946+69C>T ENSP00000514686.1:n.*1946+69C>T
ENST00000699919.1:c.*2032+69C>T ENSP00000514687.1:n.*2032+69C>T
ENST00000699920.1:c.*2081+69C>T ENSP00000514688.1:n.*2081+69C>T
ENST00000699928.1:c.*383+69C>T ENSP00000514693.1:n.*383+69C>T
ENST00000699951.1:c.*1498+69C>T ENSP00000514706.1:n.*1498+69C>T
ENST00000699952.1:c.804-3977C>T ENSP00000514707.1:n.804-3977C>T
ENST00000265849.12:c.2445+69C>T MANE Select ENSP00000265849.7:n.2445+69C>T
ENST00000642292.1:c.2040+69C>T ENSP00000495524.1:n.2040+69C>T
ENST00000642456.1:c.2040+69C>T ENSP00000493814.1:n.2040+69C>T
ENST00000643595.1:c.*1844+69C>T ENSP00000494497.1:n.*1844+69C>T
ENST00000644110.1:c.2127+69C>T ENSP00000496392.1:n.2127+69C>T
ENST00000265849.11:c.2445+69C>T ENSP00000265849.7:n.2445+69C>T
ENST00000382321.5:c.1242+69C>T ENSP00000371758.4:n.1242+69C>T
ENST00000441476.6:c.2127+69C>T ENSP00000392843.2:n.2127+69C>T
NM_000535.5:c.2445+69C>T , LRG_161t1:c.2445+69C>T NP_000526.1:n.2445+69C>T
NR_003085.2:n.2527+69C>T
XM_006715742.2:c.2439+69C>T XP_006715805.1:n.2439+69C>T
XM_006715744.2:c.1512+69C>T XP_006715807.1:n.1512+69C>T
XM_011515427.1:c.2490+69C>T XP_011513729.1:n.2490+69C>T
XM_011515428.1:c.2334+69C>T XP_011513730.1:n.2334+69C>T
XM_011515429.1:c.2127+69C>T XP_011513731.1:n.2127+69C>T
XM_011515430.1:c.2127+69C>T XP_011513732.1:n.2127+69C>T
NM_000535.6:c.2445+69C>T NP_000526.2:n.2445+69C>T
NM_001322003.1:c.2040+69C>T NP_001308932.1:n.2040+69C>T
NM_001322004.1:c.2040+69C>T NP_001308933.1:n.2040+69C>T
NM_001322005.1:c.2040+69C>T NP_001308934.1:n.2040+69C>T
NM_001322006.1:c.2289+69C>T NP_001308935.1:n.2289+69C>T
NM_001322007.1:c.2127+69C>T NP_001308936.1:n.2127+69C>T
NM_001322008.1:c.2127+69C>T NP_001308937.1:n.2127+69C>T
NM_001322009.1:c.2073+69C>T NP_001308938.1:n.2073+69C>T
NM_001322010.1:c.1884+69C>T NP_001308939.1:n.1884+69C>T
NM_001322011.1:c.1512+69C>T NP_001308940.1:n.1512+69C>T
NM_001322012.1:c.1512+69C>T NP_001308941.1:n.1512+69C>T
NM_001322013.1:c.1872+69C>T NP_001308942.1:n.1872+69C>T
NM_001322014.1:c.2478+69C>T NP_001308943.1:n.2478+69C>T
NM_001322015.1:c.2136+69C>T NP_001308944.1:n.2136+69C>T
NR_136154.1:n.2489+69C>T
XM_006715744.4:c.1512+69C>T XP_006715807.1:n.1512+69C>T
XM_017012342.2:c.1512+69C>T XP_016867831.1:n.1512+69C>T
XM_024446800.1:c.1884+69C>T XP_024302568.1:n.1884+69C>T
NM_000535.7:c.2445+69C>T MANE Select NP_000526.2:n.2445+69C>T
NM_001322003.2:c.2040+69C>T NP_001308932.1:n.2040+69C>T
NM_001322004.2:c.2040+69C>T NP_001308933.1:n.2040+69C>T
NM_001322005.2:c.2040+69C>T NP_001308934.1:n.2040+69C>T
NM_001322006.2:c.2289+69C>T NP_001308935.1:n.2289+69C>T
NM_001322008.2:c.2127+69C>T NP_001308937.1:n.2127+69C>T
NM_001322009.2:c.2073+69C>T NP_001308938.1:n.2073+69C>T
NM_001322010.2:c.1884+69C>T NP_001308939.1:n.1884+69C>T
NM_001322011.2:c.1512+69C>T NP_001308940.1:n.1512+69C>T
NM_001322012.2:c.1512+69C>T NP_001308941.1:n.1512+69C>T
NM_001322013.2:c.1872+69C>T NP_001308942.1:n.1872+69C>T
NM_001322014.2:c.2478+69C>T NP_001308943.1:n.2478+69C>T
NM_001322015.2:c.2136+69C>T NP_001308944.1:n.2136+69C>T
NM_001322007.2:c.2127+69C>T NP_001308936.1:n.2127+69C>T
Search 100 bp 5'
Search 100 bp 3'