Canonical Allele Identifier: CA351098398

Gene: TRPM8

Linked Data

• MyVariant Identifiers: chr2:g.234854513C>T (hg19) ; chr2:g.233945869C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233945869C>T , CM000664.2:g.233945869C>T	GRCh38
NC_000002.11:g.234854513C>T , CM000664.1:g.234854513C>T	GRCh37
NC_000002.10:g.234519252C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324695.9:c.713C>T MANE Select	ENSP00000323926.4:p.Ala238Val
ENST00000324695.8:c.713C>T	ENSP00000323926.4:p.Ala238Val
ENST00000433712.6:c.-11C>T	ENSP00000404423.3:n.-11C>T
ENST00000444298.5:c.713C>T	ENSP00000396745.1:p.Ala238Val
NM_024080.4:c.713C>T	NP_076985.4:p.Ala238Val
XM_011511810.1:c.713C>T	XP_011510112.1:p.Ala238Val
XM_011511810.2:c.713C>T	XP_011510112.1:p.Ala238Val
XM_017004891.1:c.482C>T	XP_016860380.1:p.Ala161Val
XM_024453132.1:c.482C>T	XP_024308900.1:p.Ala161Val
NM_024080.5:c.713C>T MANE Select	NP_076985.4:p.Ala238Val
NM_001397606.1:c.713C>T	NP_001384535.1:p.Ala238Val
NM_001397607.1:c.563C>T	NP_001384536.1:p.Ala188Val
NM_001397608.1:c.713C>T	NP_001384537.1:p.Ala238Val
NM_001397609.1:c.482C>T	NP_001384538.1:p.Ala161Val
NM_001397610.1:c.482C>T	NP_001384539.1:p.Ala161Val
NM_001397611.1:c.482C>T	NP_001384540.1:p.Ala161Val
NM_001397612.1:c.482C>T	NP_001384541.1:p.Ala161Val
NM_001397613.1:c.482C>T	NP_001384542.1:p.Ala161Val
NM_001397615.1:c.-311-1219C>T	NP_001384544.1:n.-311-1219C>T
NM_001397635.1:c.29-1219C>T	NP_001384564.1:n.29-1219C>T