Canonical Allele Identifier: CA153218760

Gene: PMS2

Linked Data

• dbSNP Id: rs929896037
• gnomAD v2: 7-6012811-GAC-G
• gnomAD v3: 7-5973180-GAC-G
• gnomAD v4: 7-5973180-GAC-G
• MyVariant Identifiers: chr7:g.6012814_6012815del (hg19) ; chr7:g.6012812_6012813del (hg19) ; chr7:g.5973183_5973184del (hg38) ; chr7:g.5973181_5973182del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973191_5973192del , CM000669.2:g.5973191_5973192del	GRCh38
NC_000007.13:g.6012822_6012823del , CM000669.1:g.6012822_6012823del	GRCh37
NC_000007.12:g.5979348_5979349del	NCBI36
NG_008466.1:g.40925_40926del , LRG_161:g.40925_40926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*2202_*2203del	ENSP00000514615.2:n.*2202_*2203del
ENST00000699930.2:c.*217_*218del	ENSP00000514695.2:n.*217_*218del
ENST00000699752.1:c.*217_*218del	ENSP00000514561.1:n.*217_*218del
ENST00000699753.1:c.*2227_*2228del	ENSP00000514562.1:n.*2227_*2228del
ENST00000699754.1:c.*217_*218del	ENSP00000514563.1:n.*217_*218del
ENST00000699755.1:c.*2205_*2206del	ENSP00000514564.1:n.*2205_*2206del
ENST00000699756.1:c.*2393_*2394del	ENSP00000514565.1:n.*2393_*2394del
ENST00000699757.1:c.*2063_*2064del	ENSP00000514566.1:n.*2063_*2064del
ENST00000699758.1:c.*2063_*2064del	ENSP00000514567.1:n.*2063_*2064del
ENST00000699759.1:n.3660_3661del
ENST00000699760.1:c.*217_*218del	ENSP00000514568.1:n.*217_*218del
ENST00000699761.1:c.*217_*218del	ENSP00000514569.1:n.*217_*218del
ENST00000699762.1:c.*217_*218del	ENSP00000514570.1:n.*217_*218del
ENST00000699763.1:c.*1896_*1897del	ENSP00000514571.1:n.*1896_*1897del
ENST00000699764.1:c.*1124_*1125del	ENSP00000514572.1:n.*1124_*1125del
ENST00000699765.1:c.*1801_*1802del	ENSP00000514573.1:n.*1801_*1802del
ENST00000699766.1:c.*217_*218del	ENSP00000514574.1:n.*217_*218del
ENST00000699767.1:c.*447_*448del	ENSP00000514575.1:n.*447_*448del
ENST00000699768.1:c.*217_*218del	ENSP00000514576.1:n.*217_*218del
ENST00000699811.1:c.*217_*218del	ENSP00000514614.1:n.*217_*218del
ENST00000699813.1:n.2919_2920del
ENST00000699814.1:c.2429_2430del
ENST00000699815.1:c.*2337_*2338del	ENSP00000514616.1:n.*2337_*2338del
ENST00000699816.1:c.*1696_*1697del	ENSP00000514617.1:n.*1696_*1697del
ENST00000699817.1:c.*2400_*2401del	ENSP00000514618.1:n.*2400_*2401del
ENST00000699818.1:c.*217_*218del	ENSP00000514619.1:n.*217_*218del
ENST00000699819.1:c.*1963_*1964del	ENSP00000514620.1:n.*1963_*1964del
ENST00000699820.1:c.*744_*745del	ENSP00000514621.1:n.*744_*745del
ENST00000699821.1:c.*217_*218del	ENSP00000514622.1:n.*217_*218del
ENST00000699833.1:n.4578_4579del
ENST00000699838.1:c.*2706_*2707del	ENSP00000514636.1:n.*2706_*2707del
ENST00000699839.1:c.*217_*218del	ENSP00000514637.1:n.*217_*218del
ENST00000699916.1:c.*2063_*2064del	ENSP00000514684.1:n.*2063_*2064del
ENST00000699917.1:c.*2255_*2256del	ENSP00000514685.1:n.*2255_*2256del
ENST00000699918.1:c.*2307_*2308del	ENSP00000514686.1:n.*2307_*2308del
ENST00000699919.1:c.*2393_*2394del	ENSP00000514687.1:n.*2393_*2394del
ENST00000699920.1:c.*2442_*2443del	ENSP00000514688.1:n.*2442_*2443del
ENST00000699928.1:c.*735+9_*735+10del
ENST00000265849.12:c.*217_*218del MANE Select	ENSP00000265849.7:n.*217_*218del
XM_006715742.2:c.*217_*218del	XP_006715805.1:n.*217_*218del
XM_006715744.2:c.*217_*218del	XP_006715807.1:n.*217_*218del
XM_011515427.1:c.*217_*218del	XP_011513729.1:n.*217_*218del
XM_011515428.1:c.*217_*218del	XP_011513730.1:n.*217_*218del
XM_011515429.1:c.*217_*218del	XP_011513731.1:n.*217_*218del
XM_011515430.1:c.*217_*218del	XP_011513732.1:n.*217_*218del
NM_000535.6:c.*217_*218del	NP_000526.2:n.*217_*218del
NM_001322003.1:c.*217_*218del	NP_001308932.1:n.*217_*218del
NM_001322004.1:c.*217_*218del	NP_001308933.1:n.*217_*218del
NM_001322005.1:c.*217_*218del	NP_001308934.1:n.*217_*218del
NM_001322006.1:c.*217_*218del	NP_001308935.1:n.*217_*218del
NM_001322007.1:c.*217_*218del	NP_001308936.1:n.*217_*218del
NM_001322008.1:c.*217_*218del	NP_001308937.1:n.*217_*218del
NM_001322009.1:c.*217_*218del	NP_001308938.1:n.*217_*218del
NM_001322010.1:c.*217_*218del	NP_001308939.1:n.*217_*218del
NM_001322011.1:c.*217_*218del	NP_001308940.1:n.*217_*218del
NM_001322012.1:c.*217_*218del	NP_001308941.1:n.*217_*218del
NM_001322013.1:c.*217_*218del	NP_001308942.1:n.*217_*218del
NM_001322014.1:c.*217_*218del	NP_001308943.1:n.*217_*218del
NM_001322015.1:c.*217_*218del	NP_001308944.1:n.*217_*218del
NR_136154.1:n.2850_2851del
XM_006715744.4:c.*217_*218del	XP_006715807.1:n.*217_*218del
XM_017012342.2:c.*217_*218del	XP_016867831.1:n.*217_*218del
XM_024446800.1:c.*217_*218del	XP_024302568.1:n.*217_*218del
NM_000535.7:c.*217_*218del MANE Select	NP_000526.2:n.*217_*218del
NM_001322003.2:c.*217_*218del	NP_001308932.1:n.*217_*218del
NM_001322004.2:c.*217_*218del	NP_001308933.1:n.*217_*218del
NM_001322005.2:c.*217_*218del	NP_001308934.1:n.*217_*218del
NM_001322006.2:c.*217_*218del	NP_001308935.1:n.*217_*218del
NM_001322008.2:c.*217_*218del	NP_001308937.1:n.*217_*218del
NM_001322009.2:c.*217_*218del	NP_001308938.1:n.*217_*218del
NM_001322010.2:c.*217_*218del	NP_001308939.1:n.*217_*218del
NM_001322011.2:c.*217_*218del	NP_001308940.1:n.*217_*218del
NM_001322012.2:c.*217_*218del	NP_001308941.1:n.*217_*218del
NM_001322013.2:c.*217_*218del	NP_001308942.1:n.*217_*218del
NM_001322014.2:c.*217_*218del	NP_001308943.1:n.*217_*218del
NM_001322015.2:c.*217_*218del	NP_001308944.1:n.*217_*218del
NM_001322007.2:c.*217_*218del	NP_001308936.1:n.*217_*218del