Canonical Allele Identifier: CA10602469

Gene: CARMIL2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67647603G>T , CM000678.2:g.67647603G>T	GRCh38
NC_000016.9:g.67681506G>T , CM000678.1:g.67681506G>T	GRCh37
NC_000016.8:g.66239007G>T	NCBI36
NG_054728.1:g.7685G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001013838.3:c.871+1G>T MANE Select	NP_001013860.1:n.871+1G>T
ENST00000334583.11:c.871+1G>T MANE Select	ENSP00000334958.5:n.871+1G>T
NM_001013838.1:c.871+1G>T	NP_001013860.1:n.871+1G>T
NM_001013838.2:c.871+1G>T	NP_001013860.1:n.871+1G>T
NM_001317026.1:c.871+1G>T	NP_001303955.1:n.871+1G>T
NM_001317026.2:c.871+1G>T	NP_001303955.1:n.871+1G>T
NM_001317026.3:c.871+1G>T	NP_001303955.1:n.871+1G>T
ENST00000334583.10:c.871+1G>T	ENSP00000334958.5:n.871+1G>T
ENST00000545661.5:c.871+1G>T	ENSP00000441481.1:n.871+1G>T
ENST00000602563.1:c.*612G>T	ENSP00000473580.1:n.*612G>T
ENST00000602742.1:n.156+1G>T
ENST00000696175.1:c.886+1G>T	ENSP00000512465.1:n.886+1G>T
ENST00000696176.1:c.886+1G>T	ENSP00000512466.1:n.886+1G>T
XM_011522874.1:c.886+1G>T	XP_011521176.1:n.886+1G>T
XM_011522875.2:c.886+1G>T	XP_011521177.2:n.886+1G>T
XM_017022953.1:c.886+1G>T	XP_016878442.1:n.886+1G>T
XR_001751843.1:n.1129+1G>T