Canonical Allele Identifier: CA401944208

Gene: AFG3L2 TUBB6

Linked Data

• gnomAD v4: 18-12337484-G-A
• MyVariant Identifiers: chr18:g.12337483G>A (hg19) ; chr18:g.12337484G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337484G>A , CM000680.2:g.12337484G>A	GRCh38
NC_000018.9:g.12337483G>A , CM000680.1:g.12337483G>A	GRCh37
NC_000018.8:g.12327483G>A	NCBI36
NG_023361.1:g.44793C>T , LRG_666:g.44793C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1628C>T (AFG3L2)	ENSP00000508998.1:n.*1628C>T
ENST00000687477.1:n.568C>T (AFG3L2)
ENST00000688199.1:c.1894C>T (AFG3L2)	ENSP00000510237.1:p.Pro632Ser
ENST00000691179.1:c.1957C>T (AFG3L2)	ENSP00000509010.1:p.Pro653Ser
ENST00000691970.1:c.*1409C>T (AFG3L2)	ENSP00000508440.1:n.*1409C>T
ENST00000692497.1:c.*462C>T (AFG3L2)	ENSP00000509870.1:n.*462C>T
ENST00000692988.1:n.1850C>T (AFG3L2)
ENST00000269143.8:c.2032C>T (AFG3L2) MANE Select	ENSP00000269143.2:p.Pro678Ser
ENST00000269143.7:c.2032C>T (AFG3L2)	ENSP00000269143.2:p.Pro678Ser
ENST00000586691.1:c.88-6565G>A (TUBB6)
NM_006796.2:c.2032C>T , LRG_666t1:c.2032C>T (AFG3L2)	NP_006787.2:p.Pro678Ser
XM_011525601.1:c.1831C>T (AFG3L2)	XP_011523903.1:p.Pro611Ser
XM_011525601.3:c.1831C>T (AFG3L2)	XP_011523903.1:p.Pro611Ser
XR_002958227.1:n.451+582G>A
NM_006796.3:c.2032C>T (AFG3L2) MANE Select	NP_006787.2:p.Pro678Ser