Canonical Allele Identifier: CA8113095

Gene: CARMIL2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67646767C>T , CM000678.2:g.67646767C>T	GRCh38
NC_000016.9:g.67680670C>T , CM000678.1:g.67680670C>T	GRCh37
NC_000016.8:g.66238171C>T	NCBI36
NG_054728.1:g.6849C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696044.1:c.*336C>T	ENSP00000512348.1:n.*336C>T
ENST00000696175.1:c.520C>T	ENSP00000512465.1:p.Arg174Ter
ENST00000696176.1:c.520C>T	ENSP00000512466.1:p.Arg174Ter
ENST00000334583.11:c.520C>T MANE Select	ENSP00000334958.5:p.Arg174Ter
ENST00000334583.10:c.520C>T	ENSP00000334958.5:p.Arg174Ter
ENST00000545661.5:c.520C>T	ENSP00000441481.1:p.Arg174Ter
ENST00000602563.1:c.*260C>T	ENSP00000473580.1:n.*260C>T
NM_001013838.1:c.520C>T	NP_001013860.1:p.Arg174Ter
NM_001317026.1:c.520C>T	NP_001303955.1:p.Arg174Ter
XM_011522874.1:c.520C>T	XP_011521176.1:p.Arg174Ter
NM_001013838.2:c.520C>T	NP_001013860.1:p.Arg174Ter
NM_001317026.2:c.520C>T	NP_001303955.1:p.Arg174Ter
XM_011522875.2:c.520C>T	XP_011521177.2:p.Arg174Ter
XM_017022953.1:c.520C>T	XP_016878442.1:p.Arg174Ter
XR_001751843.1:n.763C>T
NM_001013838.3:c.520C>T MANE Select	NP_001013860.1:p.Arg174Ter
NM_001317026.3:c.520C>T	NP_001303955.1:p.Arg174Ter