Canonical Allele Identifier: CA2681676003

Gene: PMS2

Linked Data

• gnomAD v4: 7-5973199-ATGCAAACATAGAGAAAAAAAATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973205_5973227del , CM000669.2:g.5973205_5973227del	GRCh38
NC_000007.13:g.6012836_6012858del , CM000669.1:g.6012836_6012858del	GRCh37
NC_000007.12:g.5979362_5979384del	NCBI36
NG_008466.1:g.40885_40907del , LRG_161:g.40885_40907del

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*2162_*2184del	ENSP00000514615.2:n.*2162_*2184del
ENST00000699930.2:c.*177_*199del	ENSP00000514695.2:n.*177_*199del
ENST00000699752.1:c.*177_*199del	ENSP00000514561.1:n.*177_*199del
ENST00000699753.1:c.*2187_*2209del	ENSP00000514562.1:n.*2187_*2209del
ENST00000699754.1:c.*177_*199del	ENSP00000514563.1:n.*177_*199del
ENST00000699755.1:c.*2165_*2187del	ENSP00000514564.1:n.*2165_*2187del
ENST00000699756.1:c.*2353_*2375del	ENSP00000514565.1:n.*2353_*2375del
ENST00000699757.1:c.*2023_*2045del	ENSP00000514566.1:n.*2023_*2045del
ENST00000699758.1:c.*2023_*2045del	ENSP00000514567.1:n.*2023_*2045del
ENST00000699759.1:n.3620_3642del
ENST00000699760.1:c.*177_*199del	ENSP00000514568.1:n.*177_*199del
ENST00000699761.1:c.*177_*199del	ENSP00000514569.1:n.*177_*199del
ENST00000699762.1:c.*177_*199del	ENSP00000514570.1:n.*177_*199del
ENST00000699763.1:c.*1856_*1878del	ENSP00000514571.1:n.*1856_*1878del
ENST00000699764.1:c.*1084_*1106del	ENSP00000514572.1:n.*1084_*1106del
ENST00000699765.1:c.*1761_*1783del	ENSP00000514573.1:n.*1761_*1783del
ENST00000699766.1:c.*177_*199del	ENSP00000514574.1:n.*177_*199del
ENST00000699767.1:c.*407_*429del	ENSP00000514575.1:n.*407_*429del
ENST00000699768.1:c.*177_*199del	ENSP00000514576.1:n.*177_*199del
ENST00000699811.1:c.*177_*199del	ENSP00000514614.1:n.*177_*199del
ENST00000699813.1:n.2879_2901del
ENST00000699814.1:c.2389_2411del
ENST00000699815.1:c.*2297_*2319del	ENSP00000514616.1:n.*2297_*2319del
ENST00000699816.1:c.*1656_*1678del	ENSP00000514617.1:n.*1656_*1678del
ENST00000699817.1:c.*2360_*2382del	ENSP00000514618.1:n.*2360_*2382del
ENST00000699818.1:c.*177_*199del	ENSP00000514619.1:n.*177_*199del
ENST00000699819.1:c.*1923_*1945del	ENSP00000514620.1:n.*1923_*1945del
ENST00000699820.1:c.*704_*726del	ENSP00000514621.1:n.*704_*726del
ENST00000699821.1:c.*177_*199del	ENSP00000514622.1:n.*177_*199del
ENST00000699833.1:n.4538_4560del
ENST00000699838.1:c.*2666_*2688del	ENSP00000514636.1:n.*2666_*2688del
ENST00000699839.1:c.*177_*199del	ENSP00000514637.1:n.*177_*199del
ENST00000699916.1:c.*2023_*2045del	ENSP00000514684.1:n.*2023_*2045del
ENST00000699917.1:c.*2215_*2237del	ENSP00000514685.1:n.*2215_*2237del
ENST00000699918.1:c.*2267_*2289del	ENSP00000514686.1:n.*2267_*2289del
ENST00000699919.1:c.*2353_*2375del	ENSP00000514687.1:n.*2353_*2375del
ENST00000699920.1:c.*2402_*2424del	ENSP00000514688.1:n.*2402_*2424del
ENST00000699928.1:c.*704_*726del	ENSP00000514693.1:n.*704_*726del
ENST00000265849.12:c.*177_*199del MANE Select	ENSP00000265849.7:n.*177_*199del
XM_006715742.2:c.*177_*199del	XP_006715805.1:n.*177_*199del
XM_006715744.2:c.*177_*199del	XP_006715807.1:n.*177_*199del
XM_011515427.1:c.*177_*199del	XP_011513729.1:n.*177_*199del
XM_011515428.1:c.*177_*199del	XP_011513730.1:n.*177_*199del
XM_011515429.1:c.*177_*199del	XP_011513731.1:n.*177_*199del
XM_011515430.1:c.*177_*199del	XP_011513732.1:n.*177_*199del
NM_000535.6:c.*177_*199del	NP_000526.2:n.*177_*199del
NM_001322003.1:c.*177_*199del	NP_001308932.1:n.*177_*199del
NM_001322004.1:c.*177_*199del	NP_001308933.1:n.*177_*199del
NM_001322005.1:c.*177_*199del	NP_001308934.1:n.*177_*199del
NM_001322006.1:c.*177_*199del	NP_001308935.1:n.*177_*199del
NM_001322007.1:c.*177_*199del	NP_001308936.1:n.*177_*199del
NM_001322008.1:c.*177_*199del	NP_001308937.1:n.*177_*199del
NM_001322009.1:c.*177_*199del	NP_001308938.1:n.*177_*199del
NM_001322010.1:c.*177_*199del	NP_001308939.1:n.*177_*199del
NM_001322011.1:c.*177_*199del	NP_001308940.1:n.*177_*199del
NM_001322012.1:c.*177_*199del	NP_001308941.1:n.*177_*199del
NM_001322013.1:c.*177_*199del	NP_001308942.1:n.*177_*199del
NM_001322014.1:c.*177_*199del	NP_001308943.1:n.*177_*199del
NM_001322015.1:c.*177_*199del	NP_001308944.1:n.*177_*199del
NR_136154.1:n.2810_2832del
XM_006715744.4:c.*177_*199del	XP_006715807.1:n.*177_*199del
XM_017012342.2:c.*177_*199del	XP_016867831.1:n.*177_*199del
XM_024446800.1:c.*177_*199del	XP_024302568.1:n.*177_*199del
NM_000535.7:c.*177_*199del MANE Select	NP_000526.2:n.*177_*199del
NM_001322003.2:c.*177_*199del	NP_001308932.1:n.*177_*199del
NM_001322004.2:c.*177_*199del	NP_001308933.1:n.*177_*199del
NM_001322005.2:c.*177_*199del	NP_001308934.1:n.*177_*199del
NM_001322006.2:c.*177_*199del	NP_001308935.1:n.*177_*199del
NM_001322008.2:c.*177_*199del	NP_001308937.1:n.*177_*199del
NM_001322009.2:c.*177_*199del	NP_001308938.1:n.*177_*199del
NM_001322010.2:c.*177_*199del	NP_001308939.1:n.*177_*199del
NM_001322011.2:c.*177_*199del	NP_001308940.1:n.*177_*199del
NM_001322012.2:c.*177_*199del	NP_001308941.1:n.*177_*199del
NM_001322013.2:c.*177_*199del	NP_001308942.1:n.*177_*199del
NM_001322014.2:c.*177_*199del	NP_001308943.1:n.*177_*199del
NM_001322015.2:c.*177_*199del	NP_001308944.1:n.*177_*199del
NM_001322007.2:c.*177_*199del	NP_001308936.1:n.*177_*199del