Canonical Allele Identifier: CA296700714

Gene: AFG3L2

Linked Data

• dbSNP Id: rs543323198
• gnomAD v3: 18-12350946-C-CA
• gnomAD v4: 18-12350946-C-CA
• MyVariant Identifiers: chr18:g.12350945_12350946insA (hg19) ; chr18:g.12350946_12350947insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12350954dup , CM000680.2:g.12350954dup	GRCh38
NC_000018.9:g.12350953dup , CM000680.1:g.12350953dup	GRCh37
NC_000018.8:g.12340953dup	NCBI36
NG_023361.1:g.31330dup , LRG_666:g.31330dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1148+138dup	ENSP00000508998.1:n.*1148+138dup
ENST00000688199.1:c.1414+138dup	ENSP00000510237.1:n.1414+138dup
ENST00000691179.1:c.1477+138dup	ENSP00000509010.1:n.1477+138dup
ENST00000691970.1:c.*929+138dup	ENSP00000508440.1:n.*929+138dup
ENST00000692497.1:c.1552+138dup	ENSP00000509870.1:n.1552+138dup
ENST00000692988.1:n.1370+138dup
ENST00000269143.8:c.1552+138dup MANE Select	ENSP00000269143.2:n.1552+138dup
ENST00000269143.7:c.1552+138dup	ENSP00000269143.2:n.1552+138dup
NM_006796.2:c.1552+138dup , LRG_666t1:c.1552+138dup	NP_006787.2:n.1552+138dup
XM_011525601.1:c.1552+138dup	XP_011523903.1:n.1552+138dup
XM_011525601.3:c.1552+138dup	XP_011523903.1:n.1552+138dup
NM_006796.3:c.1552+138dup MANE Select	NP_006787.2:n.1552+138dup