Canonical Allele Identifier: CA401944106

Gene: AFG3L2 TUBB6

Linked Data

• dbSNP Id: rs1164105639
• gnomAD v3: 18-12337462-A-G
• gnomAD v4: 18-12337462-A-G
• MyVariant Identifiers: chr18:g.12337461A>G (hg19) ; chr18:g.12337462A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337462A>G , CM000680.2:g.12337462A>G	GRCh38
NC_000018.9:g.12337461A>G , CM000680.1:g.12337461A>G	GRCh37
NC_000018.8:g.12327461A>G	NCBI36
NG_023361.1:g.44815T>C , LRG_666:g.44815T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1650T>C (AFG3L2)	ENSP00000508998.1:n.*1650T>C
ENST00000687477.1:n.590T>C (AFG3L2)
ENST00000688199.1:c.1916T>C (AFG3L2)	ENSP00000510237.1:p.Leu639Ser
ENST00000691179.1:c.1979T>C (AFG3L2)	ENSP00000509010.1:p.Leu660Ser
ENST00000691970.1:c.*1431T>C (AFG3L2)	ENSP00000508440.1:n.*1431T>C
ENST00000692497.1:c.*484T>C (AFG3L2)	ENSP00000509870.1:n.*484T>C
ENST00000692988.1:n.1872T>C (AFG3L2)
ENST00000269143.8:c.2054T>C (AFG3L2) MANE Select	ENSP00000269143.2:p.Leu685Ser
ENST00000269143.7:c.2054T>C (AFG3L2)	ENSP00000269143.2:p.Leu685Ser
ENST00000586691.1:c.88-6587A>G (TUBB6)
NM_006796.2:c.2054T>C , LRG_666t1:c.2054T>C (AFG3L2)	NP_006787.2:p.Leu685Ser
XM_011525601.1:c.1853T>C (AFG3L2)	XP_011523903.1:p.Leu618Ser
XM_011525601.3:c.1853T>C (AFG3L2)	XP_011523903.1:p.Leu618Ser
XR_002958227.1:n.451+560A>G
NM_006796.3:c.2054T>C (AFG3L2) MANE Select	NP_006787.2:p.Leu685Ser