Canonical Allele Identifier: CA368188064

Gene: HEPACAM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93197542A>C , CM000669.2:g.93197542A>C	GRCh38
NC_000007.13:g.92826855A>C , CM000669.1:g.92826855A>C	GRCh37
NC_000007.12:g.92664791A>C	NCBI36
NG_051957.1:g.39657T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001039372.4:c.1081T>G MANE Select	NP_001034461.1:p.Phe361Val
ENST00000394468.7:c.1081T>G MANE Select	ENSP00000377980.2:p.Phe361Val
NM_001039372.2:c.1081T>G	NP_001034461.1:p.Phe361Val
NM_001039372.3:c.1081T>G	NP_001034461.1:p.Phe361Val
NM_001288804.1:c.1150T>G	NP_001275733.1:p.Phe384Val
NM_001288804.2:c.1150T>G	NP_001275733.1:p.Phe384Val
NM_001288804.3:c.1150T>G	NP_001275733.1:p.Phe384Val
NM_001288810.1:c.1045T>G	NP_001275739.1:p.Phe349Val
NM_001288810.2:c.1045T>G	NP_001275739.1:p.Phe349Val
NM_001288810.3:c.1045T>G	NP_001275739.1:p.Phe349Val
NM_001346642.1:c.856T>G	NP_001333571.1:p.Phe286Val
NM_001346642.2:c.856T>G	NP_001333571.1:p.Phe286Val
NM_198151.2:c.1045T>G	NP_937794.1:p.Phe349Val
NM_198151.3:c.1045T>G	NP_937794.1:p.Phe349Val
NM_198151.4:c.1045T>G	NP_937794.1:p.Phe349Val
ENST00000341723.8:c.1045T>G	ENSP00000340532.4:p.Phe349Val
ENST00000394468.6:c.1081T>G	ENSP00000377980.2:p.Phe361Val
ENST00000440868.5:c.1045T>G	ENSP00000389592.1:p.Phe349Val
ENST00000453812.2:c.1150T>G	ENSP00000390204.2:p.Phe384Val
ENST00000492616.1:n.204T>G
XM_011516000.1:c.856T>G	XP_011514302.1:p.Phe286Val
XM_011516001.1:c.856T>G	XP_011514303.1:p.Phe286Val
XM_011516001.2:c.856T>G	XP_011514303.1:p.Phe286Val