Canonical Allele Identifier: CA502964913

Gene: AFG3L2

Linked Data

• ClinVar Variation Id: 1806915
• ClinVar RCV Id: RCV002474344
• MyVariant Identifiers: chr18:g.12351124T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351125T>C , CM000680.2:g.12351125T>C	GRCh38
NC_000018.9:g.12351124T>C , CM000680.1:g.12351124T>C	GRCh37
NC_000018.8:g.12341124T>C	NCBI36
NG_023361.1:g.31152A>G , LRG_666:g.31152A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1108A>G	ENSP00000508998.1:n.*1108A>G
ENST00000688199.1:c.1374A>G	ENSP00000510237.1:p.Lys458=
ENST00000691179.1:c.1437A>G	ENSP00000509010.1:p.Lys479=
ENST00000691970.1:c.*889A>G	ENSP00000508440.1:n.*889A>G
ENST00000692497.1:c.1512A>G	ENSP00000509870.1:p.Lys504=
ENST00000692988.1:n.1330A>G
ENST00000269143.8:c.1512A>G MANE Select	ENSP00000269143.2:p.Lys504=
ENST00000269143.7:c.1512A>G	ENSP00000269143.2:p.Lys504=
NM_006796.2:c.1512A>G , LRG_666t1:c.1512A>G	NP_006787.2:p.Lys504=
XM_011525601.1:c.1512A>G	XP_011523903.1:p.Lys504=
XM_011525601.3:c.1512A>G	XP_011523903.1:p.Lys504=
NM_006796.3:c.1512A>G MANE Select	NP_006787.2:p.Lys504=