Canonical Allele Identifier: CA10602468

Gene: CARMIL2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67646737dup , CM000678.2:g.67646737dup	GRCh38
NC_000016.9:g.67680640dup , CM000678.1:g.67680640dup	GRCh37
NC_000016.8:g.66238141dup	NCBI36
NG_054728.1:g.6819dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696044.1:c.*306dup	ENSP00000512348.1:n.*306dup
ENST00000696175.1:c.490dup	ENSP00000512465.1:p.Ala164GlyfsTer4
ENST00000696176.1:c.490dup	ENSP00000512466.1:p.Ala164GlyfsTer4
ENST00000334583.11:c.490dup MANE Select	ENSP00000334958.5:p.Ala164GlyfsTer4
ENST00000334583.10:c.490dup	ENSP00000334958.5:p.Ala164GlyfsTer4
ENST00000545661.5:c.490dup	ENSP00000441481.1:p.Ala164GlyfsTer4
ENST00000602563.1:c.*230dup	ENSP00000473580.1:n.*230dup
NM_001013838.1:c.490dup	NP_001013860.1:p.Ala164GlyfsTer4
NM_001317026.1:c.490dup	NP_001303955.1:p.Ala164GlyfsTer4
XM_011522874.1:c.490dup	XP_011521176.1:p.Ala164GlyfsTer4
NM_001013838.2:c.490dup	NP_001013860.1:p.Ala164GlyfsTer4
NM_001317026.2:c.490dup	NP_001303955.1:p.Ala164GlyfsTer4
XM_011522875.2:c.490dup	XP_011521177.2:p.Ala164GlyfsTer4
XM_017022953.1:c.490dup	XP_016878442.1:p.Ala164GlyfsTer4
XR_001751843.1:n.733dup
NM_001013838.3:c.490dup MANE Select	NP_001013860.1:p.Ala164GlyfsTer4
NM_001317026.3:c.490dup	NP_001303955.1:p.Ala164GlyfsTer4