Canonical Allele Identifier: CA401943520

Gene: AFG3L2 TUBB6

Linked Data

• dbSNP Id: rs1444231167
• gnomAD v2: 18-12337340-C-A
• gnomAD v3: 18-12337341-C-A
• gnomAD v4: 18-12337341-C-A
• MyVariant Identifiers: chr18:g.12337340C>A (hg19) ; chr18:g.12337341C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337341C>A , CM000680.2:g.12337341C>A	GRCh38
NC_000018.9:g.12337340C>A , CM000680.1:g.12337340C>A	GRCh37
NC_000018.8:g.12327340C>A	NCBI36
NG_023361.1:g.44936G>T , LRG_666:g.44936G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1771G>T (AFG3L2)	ENSP00000508998.1:n.*1771G>T
ENST00000687477.1:n.711G>T (AFG3L2)
ENST00000688199.1:c.2037G>T (AFG3L2)	ENSP00000510237.1:p.Lys679Asn
ENST00000691179.1:c.2100G>T (AFG3L2)	ENSP00000509010.1:p.Lys700Asn
ENST00000691970.1:c.*1552G>T (AFG3L2)	ENSP00000508440.1:n.*1552G>T
ENST00000692497.1:c.*605G>T (AFG3L2)	ENSP00000509870.1:n.*605G>T
ENST00000692988.1:n.1993G>T (AFG3L2)
ENST00000269143.8:c.2175G>T (AFG3L2) MANE Select	ENSP00000269143.2:p.Lys725Asn
ENST00000269143.7:c.2175G>T (AFG3L2)	ENSP00000269143.2:p.Lys725Asn
ENST00000586691.1:c.88-6708C>A (TUBB6)
NM_006796.2:c.2175G>T , LRG_666t1:c.2175G>T (AFG3L2)	NP_006787.2:p.Lys725Asn
XM_011525601.1:c.1974G>T (AFG3L2)	XP_011523903.1:p.Lys658Asn
XM_011525601.3:c.1974G>T (AFG3L2)	XP_011523903.1:p.Lys658Asn
XR_002958227.1:n.451+439C>A
NM_006796.3:c.2175G>T (AFG3L2) MANE Select	NP_006787.2:p.Lys725Asn