Canonical Allele Identifier: CA502964914

Gene: AFG3L2

Linked Data

• dbSNP Id: rs1248877790
• gnomAD v3: 18-12351128-A-G
• gnomAD v4: 18-12351128-A-G
• MyVariant Identifiers: chr18:g.12351127A>G (hg19) ; chr18:g.12351128A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351128A>G , CM000680.2:g.12351128A>G	GRCh38
NC_000018.9:g.12351127A>G , CM000680.1:g.12351127A>G	GRCh37
NC_000018.8:g.12341127A>G	NCBI36
NG_023361.1:g.31149T>C , LRG_666:g.31149T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1105T>C	ENSP00000508998.1:n.*1105T>C
ENST00000688199.1:c.1371T>C	ENSP00000510237.1:p.Asp457=
ENST00000691179.1:c.1434T>C	ENSP00000509010.1:p.Asp478=
ENST00000691970.1:c.*886T>C	ENSP00000508440.1:n.*886T>C
ENST00000692497.1:c.1509T>C	ENSP00000509870.1:p.Asp503=
ENST00000692988.1:n.1327T>C
ENST00000269143.8:c.1509T>C MANE Select	ENSP00000269143.2:p.Asp503=
ENST00000269143.7:c.1509T>C	ENSP00000269143.2:p.Asp503=
NM_006796.2:c.1509T>C , LRG_666t1:c.1509T>C	NP_006787.2:p.Asp503=
XM_011525601.1:c.1509T>C	XP_011523903.1:p.Asp503=
XM_011525601.3:c.1509T>C	XP_011523903.1:p.Asp503=
NM_006796.3:c.1509T>C MANE Select	NP_006787.2:p.Asp503=