Canonical Allele Identifier: CA8896480

Gene: AFG3L2

Linked Data

• dbSNP Id: rs762665023
• ExAC: 18:12351108 C / G
• gnomAD v2: 18-12351108-C-G
• gnomAD v4: 18-12351109-C-G
• MyVariant Identifiers: chr18:g.12351108C>G (hg19) ; chr18:g.12351109C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351109C>G , CM000680.2:g.12351109C>G	GRCh38
NC_000018.9:g.12351108C>G , CM000680.1:g.12351108C>G	GRCh37
NC_000018.8:g.12341108C>G	NCBI36
NG_023361.1:g.31168G>C , LRG_666:g.31168G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1124G>C	ENSP00000508998.1:n.*1124G>C
ENST00000688199.1:c.1390G>C	ENSP00000510237.1:p.Ala464Pro
ENST00000691179.1:c.1453G>C	ENSP00000509010.1:p.Ala485Pro
ENST00000691970.1:c.*905G>C	ENSP00000508440.1:n.*905G>C
ENST00000692497.1:c.1528G>C	ENSP00000509870.1:p.Ala510Pro
ENST00000692988.1:n.1346G>C
ENST00000269143.8:c.1528G>C MANE Select	ENSP00000269143.2:p.Ala510Pro
ENST00000269143.7:c.1528G>C	ENSP00000269143.2:p.Ala510Pro
NM_006796.2:c.1528G>C , LRG_666t1:c.1528G>C	NP_006787.2:p.Ala510Pro
XM_011525601.1:c.1528G>C	XP_011523903.1:p.Ala510Pro
XM_011525601.3:c.1528G>C	XP_011523903.1:p.Ala510Pro
NM_006796.3:c.1528G>C MANE Select	NP_006787.2:p.Ala510Pro