Canonical Allele Identifier: CA1139767786

Gene: AFG3L2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.[12340323G>T;12351347G>A] , CM000680.2:g.[12340323G>T;12351347G>A]	GRCh38
NC_000018.9:g.[12340322G>T;12351346G>A] , CM000680.1:g.[12340322G>T;12351346G>A]	GRCh37
NC_000018.8:g.[12330322G>T;12341346G>A]	NCBI36
NG_023361.1:g.[30930C>T;41954C>A] , LRG_666:g.[30930C>T;41954C>A]

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.[1385C>T;1858C>A] MANE Select	NP_006787.2:p.[Ala462Val;Gln620Lys]
ENST00000269143.8:c.[1385C>T;1858C>A] MANE Select	ENSP00000269143.2:p.[Ala462Val;Gln620Lys]
NM_006796.2:c.[1385C>T;1858C>A] , LRG_666t1:c.[1385C>T;1858C>A]	NP_006787.2:p.[Ala462Val;Gln620Lys]
ENST00000269143.7:c.[1385C>T;1858C>A]	ENSP00000269143.2:p.[Ala462Val;Gln620Lys]
ENST00000687337.1:c.[*981C>T;*1454C>A]	ENSP00000508998.1:n.[*981C>T;*1454C>A]
ENST00000688199.1:c.[1247C>T;1720C>A]	ENSP00000510237.1:p.[Ala416Val;Gln574Lys]
ENST00000691179.1:c.[1310C>T;1783C>A]	ENSP00000509010.1:p.[Ala437Val;Gln595Lys]
ENST00000691970.1:c.[*762C>T;*1235C>A]	ENSP00000508440.1:n.[*762C>T;*1235C>A]
ENST00000692497.1:c.[1385C>T;*288C>A]	ENSP00000509870.1:[p.Ala462Val;n.*288C>A]
ENST00000692988.1:n.[1203C>T;1676C>A]
XM_011525601.1:c.[1385C>T;1780-2788C>A]	XP_011523903.1:p.Ala462Val
XM_011525601.3:c.[1385C>T;1780-2788C>A]	XP_011523903.1:p.Ala462Val