Canonical Allele Identifier: CA396344813

Gene: CARMIL2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67654519C>T , CM000678.2:g.67654519C>T	GRCh38
NC_000016.9:g.67688422C>T , CM000678.1:g.67688422C>T	GRCh37
NC_000016.8:g.66245923C>T	NCBI36
NG_054728.1:g.14601C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001013838.3:c.3409C>T MANE Select	NP_001013860.1:p.Arg1137Trp
ENST00000334583.11:c.3409C>T MANE Select	ENSP00000334958.5:p.Arg1137Trp
NM_001013838.1:c.3409C>T	NP_001013860.1:p.Arg1137Trp
NM_001013838.2:c.3409C>T	NP_001013860.1:p.Arg1137Trp
NM_001317026.1:c.3301C>T	NP_001303955.1:p.Arg1101Trp
NM_001317026.2:c.3301C>T	NP_001303955.1:p.Arg1101Trp
NM_001317026.3:c.3301C>T	NP_001303955.1:p.Arg1101Trp
ENST00000334583.10:c.3409C>T	ENSP00000334958.5:p.Arg1137Trp
ENST00000545661.5:c.3301C>T	ENSP00000441481.1:p.Arg1101Trp
ENST00000602368.1:c.2C>T
ENST00000602924.2:c.391C>T	ENSP00000512349.1:p.Arg131Trp
ENST00000696045.1:n.328C>T
ENST00000696175.1:c.3316C>T	ENSP00000512465.1:p.Arg1106Trp
ENST00000696176.1:c.3316C>T	ENSP00000512466.1:p.Arg1106Trp
XM_011522874.1:c.3316C>T	XP_011521176.1:p.Arg1106Trp
XM_011522875.1:c.1402C>T	XP_011521177.1:p.Arg468Trp
XM_011522875.2:c.3316C>T	XP_011521177.2:p.Arg1106Trp
XM_017022953.1:c.3316C>T	XP_016878442.1:p.Arg1106Trp
XR_001751843.1:n.3559C>T