Canonical Allele Identifier: CA351098712

Gene: TRPM8

Linked Data

• MyVariant Identifiers: chr2:g.234854544T>A (hg19) ; chr2:g.233945900T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233945900T>A , CM000664.2:g.233945900T>A	GRCh38
NC_000002.11:g.234854544T>A , CM000664.1:g.234854544T>A	GRCh37
NC_000002.10:g.234519283T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324695.9:c.744T>A MANE Select	ENSP00000323926.4:p.Asp248Glu
ENST00000324695.8:c.744T>A	ENSP00000323926.4:p.Asp248Glu
ENST00000433712.6:c.21T>A	ENSP00000404423.3:p.Asp7Glu
ENST00000444298.5:c.744T>A	ENSP00000396745.1:p.Asp248Glu
NM_024080.4:c.744T>A	NP_076985.4:p.Asp248Glu
XM_011511810.1:c.744T>A	XP_011510112.1:p.Asp248Glu
XM_011511810.2:c.744T>A	XP_011510112.1:p.Asp248Glu
XM_017004891.1:c.513T>A	XP_016860380.1:p.Asp171Glu
XM_024453132.1:c.513T>A	XP_024308900.1:p.Asp171Glu
NM_024080.5:c.744T>A MANE Select	NP_076985.4:p.Asp248Glu
NM_001397606.1:c.744T>A	NP_001384535.1:p.Asp248Glu
NM_001397607.1:c.594T>A	NP_001384536.1:p.Asp198Glu
NM_001397608.1:c.744T>A	NP_001384537.1:p.Asp248Glu
NM_001397609.1:c.513T>A	NP_001384538.1:p.Asp171Glu
NM_001397610.1:c.513T>A	NP_001384539.1:p.Asp171Glu
NM_001397611.1:c.513T>A	NP_001384540.1:p.Asp171Glu
NM_001397612.1:c.513T>A	NP_001384541.1:p.Asp171Glu
NM_001397613.1:c.513T>A	NP_001384542.1:p.Asp171Glu
NM_001397615.1:c.-311-1188T>A	NP_001384544.1:n.-311-1188T>A
NM_001397635.1:c.29-1188T>A	NP_001384564.1:n.29-1188T>A