Canonical Allele Identifier: CA401953058

Gene: AFG3L2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12356693C>T , CM000680.2:g.12356693C>T	GRCh38
NC_000018.9:g.12356692C>T , CM000680.1:g.12356692C>T	GRCh37
NC_000018.8:g.12346692C>T	NCBI36
NG_023361.1:g.25584G>A , LRG_666:g.25584G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.1164+1G>A MANE Select	NP_006787.2:n.1164+1G>A
ENST00000269143.8:c.1164+1G>A MANE Select	ENSP00000269143.2:n.1164+1G>A
NM_006796.2:c.1164+1G>A , LRG_666t1:c.1164+1G>A	NP_006787.2:n.1164+1G>A
ENST00000269143.7:c.1164+1G>A	ENSP00000269143.2:n.1164+1G>A
ENST00000687337.1:c.*760+1G>A	ENSP00000508998.1:n.*760+1G>A
ENST00000688199.1:c.1026+1977G>A	ENSP00000510237.1:n.1026+1977G>A
ENST00000691179.1:c.1089+1G>A	ENSP00000509010.1:n.1089+1G>A
ENST00000691970.1:c.*541+1G>A	ENSP00000508440.1:n.*541+1G>A
ENST00000692497.1:c.1164+1G>A	ENSP00000509870.1:n.1164+1G>A
ENST00000692988.1:n.982+1G>A
XM_011525601.1:c.1164+1G>A	XP_011523903.1:n.1164+1G>A
XM_011525601.3:c.1164+1G>A	XP_011523903.1:n.1164+1G>A