Canonical Allele Identifier: CA2576459143

Gene: AFG3L2

Linked Data

• gnomAD v4: 18-12351002-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351002A>G , CM000680.2:g.12351002A>G	GRCh38
NC_000018.9:g.12351001A>G , CM000680.1:g.12351001A>G	GRCh37
NC_000018.8:g.12341001A>G	NCBI36
NG_023361.1:g.31275T>C , LRG_666:g.31275T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1148+83T>C	ENSP00000508998.1:n.*1148+83T>C
ENST00000688199.1:c.1414+83T>C	ENSP00000510237.1:n.1414+83T>C
ENST00000691179.1:c.1477+83T>C	ENSP00000509010.1:n.1477+83T>C
ENST00000691970.1:c.*929+83T>C	ENSP00000508440.1:n.*929+83T>C
ENST00000692497.1:c.1552+83T>C	ENSP00000509870.1:n.1552+83T>C
ENST00000692988.1:n.1370+83T>C
ENST00000269143.8:c.1552+83T>C MANE Select	ENSP00000269143.2:n.1552+83T>C
ENST00000269143.7:c.1552+83T>C	ENSP00000269143.2:n.1552+83T>C
NM_006796.2:c.1552+83T>C , LRG_666t1:c.1552+83T>C	NP_006787.2:n.1552+83T>C
XM_011525601.1:c.1552+83T>C	XP_011523903.1:n.1552+83T>C
XM_011525601.3:c.1552+83T>C	XP_011523903.1:n.1552+83T>C
NM_006796.3:c.1552+83T>C MANE Select	NP_006787.2:n.1552+83T>C