Canonical Allele Identifier: CA2499225051

Gene: AFG3L2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12360045dup , CM000680.2:g.12360045dup	GRCh38
NC_000018.9:g.12360044dup , CM000680.1:g.12360044dup	GRCh37
NC_000018.8:g.12350044dup	NCBI36
NG_023361.1:g.22232dup , LRG_666:g.22232dup

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.634dup MANE Select	NP_006787.2:p.Val212GlyfsTer4
ENST00000269143.8:c.634dup MANE Select	ENSP00000269143.2:p.Val212GlyfsTer4
NM_006796.2:c.634dup , LRG_666t1:c.634dup	NP_006787.2:p.Val212GlyfsTer4
ENST00000269143.7:c.634dup	ENSP00000269143.2:p.Val212GlyfsTer4
ENST00000590811.1:c.269dup
ENST00000591848.1:n.189dup
ENST00000687337.1:c.*230dup	ENSP00000508998.1:n.*230dup
ENST00000688199.1:c.634dup	ENSP00000510237.1:p.Val212GlyfsTer4
ENST00000691179.1:c.559dup	ENSP00000509010.1:p.Val187GlyfsTer4
ENST00000691970.1:c.*11dup	ENSP00000508440.1:n.*11dup
ENST00000692497.1:c.634dup	ENSP00000509870.1:p.Val212GlyfsTer4
ENST00000692988.1:n.452dup
XM_011525601.1:c.634dup	XP_011523903.1:p.Val212GlyfsTer4
XM_011525601.3:c.634dup	XP_011523903.1:p.Val212GlyfsTer4