Canonical Allele Identifier: CA2182690

Gene: TRPM8

Linked Data

• dbSNP Id: rs761976363
• ExAC: 2:234888892 C / CT
• gnomAD v2: 2-234888892-C-CT
• gnomAD v3: 2-233980248-C-CT
• gnomAD v4: 2-233980248-C-CT
• MyVariant Identifiers: chr2:g.234888892_234888893insT (hg19) ; chr2:g.233980248_233980249insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233980254dup , CM000664.2:g.233980254dup	GRCh38
NC_000002.11:g.234888898dup , CM000664.1:g.234888898dup	GRCh37
NC_000002.10:g.234553637dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324695.9:c.2422dup MANE Select	ENSP00000323926.4:p.Tyr808LeufsTer14
ENST00000324695.8:c.2422dup	ENSP00000323926.4:p.Tyr808LeufsTer14
ENST00000433712.6:c.1369dup	ENSP00000404423.3:p.Tyr457LeufsTer14
ENST00000444298.5:c.*1371dup	ENSP00000396745.1:n.*1371dup
ENST00000456930.1:c.205dup	ENSP00000414198.1:p.Tyr69LeufsTer14
ENST00000475044.5:n.127-2799dup
ENST00000477103.1:n.133dup
NM_024080.4:c.2422dup	NP_076985.4:p.Tyr808LeufsTer14
XM_011511810.1:c.2422dup	XP_011510112.1:p.Tyr808LeufsTer14
XM_011511810.2:c.2422dup	XP_011510112.1:p.Tyr808LeufsTer14
XM_017004891.1:c.2191dup	XP_016860380.1:p.Tyr731LeufsTer14
XM_024453132.1:c.2191dup	XP_024308900.1:p.Tyr731LeufsTer14
XM_024453133.1:c.1237dup	XP_024308901.1:p.Tyr413LeufsTer14
XM_024453134.1:c.1237dup	XP_024308902.1:p.Tyr413LeufsTer14
NM_024080.5:c.2422dup MANE Select	NP_076985.4:p.Tyr808LeufsTer14
NM_001397606.1:c.2422dup	NP_001384535.1:p.Tyr808LeufsTer14
NM_001397607.1:c.2272dup	NP_001384536.1:p.Tyr758LeufsTer14
NM_001397608.1:c.2422dup	NP_001384537.1:p.Tyr808LeufsTer14
NM_001397609.1:c.2191dup	NP_001384538.1:p.Tyr731LeufsTer14
NM_001397610.1:c.2191dup	NP_001384539.1:p.Tyr731LeufsTer14
NM_001397611.1:c.2191dup	NP_001384540.1:p.Tyr731LeufsTer14
NM_001397612.1:c.2191dup	NP_001384541.1:p.Tyr731LeufsTer14
NM_001397613.1:c.2191dup	NP_001384542.1:p.Tyr731LeufsTer14
NM_001397614.1:c.1237dup	NP_001384543.1:p.Tyr413LeufsTer14
NM_001397615.1:c.1237dup	NP_001384544.1:p.Tyr413LeufsTer14
NM_001397617.1:c.22dup	NP_001384546.1:p.Tyr8LeufsTer14
NM_001397619.1:c.1237dup	NP_001384548.1:p.Tyr413LeufsTer14
NM_001397620.1:c.22dup	NP_001384549.1:p.Tyr8LeufsTer14
NM_001397621.1:c.22dup	NP_001384550.1:p.Tyr8LeufsTer14
NM_001397622.1:c.22dup	NP_001384551.1:p.Tyr8LeufsTer14
NM_001397623.1:c.22dup	NP_001384552.1:p.Tyr8LeufsTer14
NM_001397624.1:c.22dup	NP_001384553.1:p.Tyr8LeufsTer14
NM_001397625.1:c.22dup	NP_001384554.1:p.Tyr8LeufsTer14
NM_001397635.1:c.1576dup	NP_001384564.1:p.Tyr526LeufsTer14