Canonical Allele Identifier: CA628225251

Gene: AFG3L2

Linked Data

• dbSNP Id: rs1426384187
• gnomAD v2: 18-12351048-T-G
• gnomAD v4: 18-12351049-T-G
• MyVariant Identifiers: chr18:g.12351048T>G (hg19) ; chr18:g.12351049T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351049T>G , CM000680.2:g.12351049T>G	GRCh38
NC_000018.9:g.12351048T>G , CM000680.1:g.12351048T>G	GRCh37
NC_000018.8:g.12341048T>G	NCBI36
NG_023361.1:g.31228A>C , LRG_666:g.31228A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1148+36A>C	ENSP00000508998.1:n.*1148+36A>C
ENST00000688199.1:c.1414+36A>C	ENSP00000510237.1:n.1414+36A>C
ENST00000691179.1:c.1477+36A>C	ENSP00000509010.1:n.1477+36A>C
ENST00000691970.1:c.*929+36A>C	ENSP00000508440.1:n.*929+36A>C
ENST00000692497.1:c.1552+36A>C	ENSP00000509870.1:n.1552+36A>C
ENST00000692988.1:n.1370+36A>C
ENST00000269143.8:c.1552+36A>C MANE Select	ENSP00000269143.2:n.1552+36A>C
ENST00000269143.7:c.1552+36A>C	ENSP00000269143.2:n.1552+36A>C
NM_006796.2:c.1552+36A>C , LRG_666t1:c.1552+36A>C	NP_006787.2:n.1552+36A>C
XM_011525601.1:c.1552+36A>C	XP_011523903.1:n.1552+36A>C
XM_011525601.3:c.1552+36A>C	XP_011523903.1:n.1552+36A>C
NM_006796.3:c.1552+36A>C MANE Select	NP_006787.2:n.1552+36A>C