Canonical Allele Identifier: CA502964531

Gene: AFG3L2 TUBB6

Linked Data

• gnomAD v4: 18-12337497-G-T
• MyVariant Identifiers: chr18:g.12337496G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337497G>T , CM000680.2:g.12337497G>T	GRCh38
NC_000018.9:g.12337496G>T , CM000680.1:g.12337496G>T	GRCh37
NC_000018.8:g.12327496G>T	NCBI36
NG_023361.1:g.44780C>A , LRG_666:g.44780C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1615C>A (AFG3L2)	ENSP00000508998.1:n.*1615C>A
ENST00000687477.1:n.555C>A (AFG3L2)
ENST00000688199.1:c.1881C>A (AFG3L2)	ENSP00000510237.1:p.Ile627=
ENST00000691179.1:c.1944C>A (AFG3L2)	ENSP00000509010.1:p.Ile648=
ENST00000691970.1:c.*1396C>A (AFG3L2)	ENSP00000508440.1:n.*1396C>A
ENST00000692497.1:c.*449C>A (AFG3L2)	ENSP00000509870.1:n.*449C>A
ENST00000692988.1:n.1837C>A (AFG3L2)
ENST00000269143.8:c.2019C>A (AFG3L2) MANE Select	ENSP00000269143.2:p.Ile673=
ENST00000269143.7:c.2019C>A (AFG3L2)	ENSP00000269143.2:p.Ile673=
ENST00000586691.1:c.88-6552G>T (TUBB6)
NM_006796.2:c.2019C>A , LRG_666t1:c.2019C>A (AFG3L2)	NP_006787.2:p.Ile673=
XM_011525601.1:c.1818C>A (AFG3L2)	XP_011523903.1:p.Ile606=
XM_011525601.3:c.1818C>A (AFG3L2)	XP_011523903.1:p.Ile606=
XR_002958227.1:n.451+595G>T
NM_006796.3:c.2019C>A (AFG3L2) MANE Select	NP_006787.2:p.Ile673=