Canonical Allele Identifier: CA502964529

Gene: AFG3L2 TUBB6

Linked Data

• dbSNP Id: rs1907788312
• gnomAD v4: 18-12337494-G-A
• MyVariant Identifiers: chr18:g.12337493G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337494G>A , CM000680.2:g.12337494G>A	GRCh38
NC_000018.9:g.12337493G>A , CM000680.1:g.12337493G>A	GRCh37
NC_000018.8:g.12327493G>A	NCBI36
NG_023361.1:g.44783C>T , LRG_666:g.44783C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1618C>T (AFG3L2)	ENSP00000508998.1:n.*1618C>T
ENST00000687477.1:n.558C>T (AFG3L2)
ENST00000688199.1:c.1884C>T (AFG3L2)	ENSP00000510237.1:p.Ser628=
ENST00000691179.1:c.1947C>T (AFG3L2)	ENSP00000509010.1:p.Ser649=
ENST00000691970.1:c.*1399C>T (AFG3L2)	ENSP00000508440.1:n.*1399C>T
ENST00000692497.1:c.*452C>T (AFG3L2)	ENSP00000509870.1:n.*452C>T
ENST00000692988.1:n.1840C>T (AFG3L2)
ENST00000269143.8:c.2022C>T (AFG3L2) MANE Select	ENSP00000269143.2:p.Ser674=
ENST00000269143.7:c.2022C>T (AFG3L2)	ENSP00000269143.2:p.Ser674=
ENST00000586691.1:c.88-6555G>A (TUBB6)
NM_006796.2:c.2022C>T , LRG_666t1:c.2022C>T (AFG3L2)	NP_006787.2:p.Ser674=
XM_011525601.1:c.1821C>T (AFG3L2)	XP_011523903.1:p.Ser607=
XM_011525601.3:c.1821C>T (AFG3L2)	XP_011523903.1:p.Ser607=
XR_002958227.1:n.451+592G>A
NM_006796.3:c.2022C>T (AFG3L2) MANE Select	NP_006787.2:p.Ser674=