Canonical Allele Identifier: CA288671

Gene: AFG3L2

Linked Data

• ClinVar Variation Id: 128286
• ClinVar RCV Id: RCV000116248 ; RCV000323296 ; RCV000676675 ; RCV001549081 ; RCV001548986
• dbSNP Id: rs11080572
• ExAC: 18:12351342 C / T
• gnomAD v2: 18-12351342-C-T
• gnomAD v3: 18-12351343-C-T
• gnomAD v4: 18-12351343-C-T
• MyVariant Identifiers: chr18:g.12351342C>T (hg19) ; chr18:g.12351343C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351343C>T , CM000680.2:g.12351343C>T	GRCh38
NC_000018.9:g.12351342C>T , CM000680.1:g.12351342C>T	GRCh37
NC_000018.8:g.12341342C>T	NCBI36
NG_023361.1:g.30934G>A , LRG_666:g.30934G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*985G>A	ENSP00000508998.1:n.*985G>A
ENST00000688199.1:c.1251G>A	ENSP00000510237.1:p.Leu417=
ENST00000691179.1:c.1314G>A	ENSP00000509010.1:p.Leu438=
ENST00000691970.1:c.*766G>A	ENSP00000508440.1:n.*766G>A
ENST00000692497.1:c.1389G>A	ENSP00000509870.1:p.Leu463=
ENST00000692988.1:n.1207G>A
ENST00000269143.8:c.1389G>A MANE Select	ENSP00000269143.2:p.Leu463=
ENST00000269143.7:c.1389G>A	ENSP00000269143.2:p.Leu463=
NM_006796.2:c.1389G>A , LRG_666t1:c.1389G>A	NP_006787.2:p.Leu463=
XM_011525601.1:c.1389G>A	XP_011523903.1:p.Leu463=
XM_011525601.3:c.1389G>A	XP_011523903.1:p.Leu463=
NM_006796.3:c.1389G>A MANE Select	NP_006787.2:p.Leu463=