Canonical Allele Identifier: CA396330721

Gene: CARMIL2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67646057G>A , CM000678.2:g.67646057G>A	GRCh38
NC_000016.9:g.67679960G>A , CM000678.1:g.67679960G>A	GRCh37
NC_000016.8:g.66237461G>A	NCBI36
NG_054728.1:g.6139G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001013838.3:c.226G>A MANE Select	NP_001013860.1:p.Ala76Thr
ENST00000334583.11:c.226G>A MANE Select	ENSP00000334958.5:p.Ala76Thr
NM_001013838.1:c.226G>A	NP_001013860.1:p.Ala76Thr
NM_001013838.2:c.226G>A	NP_001013860.1:p.Ala76Thr
NM_001317026.1:c.226G>A	NP_001303955.1:p.Ala76Thr
NM_001317026.2:c.226G>A	NP_001303955.1:p.Ala76Thr
NM_001317026.3:c.226G>A	NP_001303955.1:p.Ala76Thr
ENST00000334583.10:c.226G>A	ENSP00000334958.5:p.Ala76Thr
ENST00000545661.5:c.226G>A	ENSP00000441481.1:p.Ala76Thr
ENST00000602467.1:n.400G>A
ENST00000602563.1:c.134G>A	ENSP00000473580.1:p.Gly45Asp
ENST00000696044.1:c.*42G>A	ENSP00000512348.1:n.*42G>A
ENST00000696175.1:c.226G>A	ENSP00000512465.1:p.Ala76Thr
ENST00000696176.1:c.226G>A	ENSP00000512466.1:p.Ala76Thr
XM_011522874.1:c.226G>A	XP_011521176.1:p.Ala76Thr
XM_011522875.2:c.226G>A	XP_011521177.2:p.Ala76Thr
XM_017022953.1:c.226G>A	XP_016878442.1:p.Ala76Thr
XR_001751843.1:n.469G>A