Canonical Allele Identifier: CA401953517

Gene: AFG3L2

Linked Data

• COSMIC: COSM3989477
• MyVariant Identifiers: chr18:g.12358734T>C (hg19) ; chr18:g.12358735T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12358735T>C , CM000680.2:g.12358735T>C	GRCh38
NC_000018.9:g.12358734T>C , CM000680.1:g.12358734T>C	GRCh37
NC_000018.8:g.12348734T>C	NCBI36
NG_023361.1:g.23542A>G , LRG_666:g.23542A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*557A>G	ENSP00000508998.1:n.*557A>G
ENST00000688199.1:c.961A>G	ENSP00000510237.1:p.Met321Val
ENST00000691179.1:c.886A>G	ENSP00000509010.1:p.Met296Val
ENST00000691970.1:c.*338A>G	ENSP00000508440.1:n.*338A>G
ENST00000692497.1:c.961A>G	ENSP00000509870.1:p.Met321Val
ENST00000692988.1:n.779A>G
ENST00000269143.8:c.961A>G MANE Select	ENSP00000269143.2:p.Met321Val
ENST00000269143.7:c.961A>G	ENSP00000269143.2:p.Met321Val
ENST00000590811.1:c.596A>G
NM_006796.2:c.961A>G , LRG_666t1:c.961A>G	NP_006787.2:p.Met321Val
XM_011525601.1:c.961A>G	XP_011523903.1:p.Met321Val
XM_011525601.3:c.961A>G	XP_011523903.1:p.Met321Val
NM_006796.3:c.961A>G MANE Select	NP_006787.2:p.Met321Val