Canonical Allele Identifier: CA401943902

Gene: AFG3L2 TUBB6

Linked Data

• gnomAD v4: 18-12337420-T-C
• MyVariant Identifiers: chr18:g.12337419T>C (hg19) ; chr18:g.12337420T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337420T>C , CM000680.2:g.12337420T>C	GRCh38
NC_000018.9:g.12337419T>C , CM000680.1:g.12337419T>C	GRCh37
NC_000018.8:g.12327419T>C	NCBI36
NG_023361.1:g.44857A>G , LRG_666:g.44857A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1692A>G (AFG3L2)	ENSP00000508998.1:n.*1692A>G
ENST00000687477.1:n.632A>G (AFG3L2)
ENST00000688199.1:c.1958A>G (AFG3L2)	ENSP00000510237.1:p.Asp653Gly
ENST00000691179.1:c.2021A>G (AFG3L2)	ENSP00000509010.1:p.Asp674Gly
ENST00000691970.1:c.*1473A>G (AFG3L2)	ENSP00000508440.1:n.*1473A>G
ENST00000692497.1:c.*526A>G (AFG3L2)	ENSP00000509870.1:n.*526A>G
ENST00000692988.1:n.1914A>G (AFG3L2)
ENST00000269143.8:c.2096A>G (AFG3L2) MANE Select	ENSP00000269143.2:p.Asp699Gly
ENST00000269143.7:c.2096A>G (AFG3L2)	ENSP00000269143.2:p.Asp699Gly
ENST00000586691.1:c.88-6629T>C (TUBB6)
NM_006796.2:c.2096A>G , LRG_666t1:c.2096A>G (AFG3L2)	NP_006787.2:p.Asp699Gly
XM_011525601.1:c.1895A>G (AFG3L2)	XP_011523903.1:p.Asp632Gly
XM_011525601.3:c.1895A>G (AFG3L2)	XP_011523903.1:p.Asp632Gly
XR_002958227.1:n.451+518T>C
NM_006796.3:c.2096A>G (AFG3L2) MANE Select	NP_006787.2:p.Asp699Gly