Canonical Allele Identifier: CA296700722

Gene: AFG3L2

Linked Data

• dbSNP Id: rs768855946
• gnomAD v2: 18-12351017-C-T
• gnomAD v3: 18-12351018-C-T
• gnomAD v4: 18-12351018-C-T
• MyVariant Identifiers: chr18:g.12351017C>T (hg19) ; chr18:g.12351018C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351018C>T , CM000680.2:g.12351018C>T	GRCh38
NC_000018.9:g.12351017C>T , CM000680.1:g.12351017C>T	GRCh37
NC_000018.8:g.12341017C>T	NCBI36
NG_023361.1:g.31259G>A , LRG_666:g.31259G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1148+67G>A	ENSP00000508998.1:n.*1148+67G>A
ENST00000688199.1:c.1414+67G>A	ENSP00000510237.1:n.1414+67G>A
ENST00000691179.1:c.1477+67G>A	ENSP00000509010.1:n.1477+67G>A
ENST00000691970.1:c.*929+67G>A	ENSP00000508440.1:n.*929+67G>A
ENST00000692497.1:c.1552+67G>A	ENSP00000509870.1:n.1552+67G>A
ENST00000692988.1:n.1370+67G>A
ENST00000269143.8:c.1552+67G>A MANE Select	ENSP00000269143.2:n.1552+67G>A
ENST00000269143.7:c.1552+67G>A	ENSP00000269143.2:n.1552+67G>A
NM_006796.2:c.1552+67G>A , LRG_666t1:c.1552+67G>A	NP_006787.2:n.1552+67G>A
XM_011525601.1:c.1552+67G>A	XP_011523903.1:n.1552+67G>A
XM_011525601.3:c.1552+67G>A	XP_011523903.1:n.1552+67G>A
NM_006796.3:c.1552+67G>A MANE Select	NP_006787.2:n.1552+67G>A