Canonical Allele Identifier: CA8896297

Gene: AFG3L2 TUBB6

Linked Data

• dbSNP Id: rs778340897
• ExAC: 18:12337330 T / A
• gnomAD v2: 18-12337330-T-A
• gnomAD v3: 18-12337331-T-A
• gnomAD v4: 18-12337331-T-A
• MyVariant Identifiers: chr18:g.12337330T>A (hg19) ; chr18:g.12337331T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337331T>A , CM000680.2:g.12337331T>A	GRCh38
NC_000018.9:g.12337330T>A , CM000680.1:g.12337330T>A	GRCh37
NC_000018.8:g.12327330T>A	NCBI36
NG_023361.1:g.44946A>T , LRG_666:g.44946A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1771+10A>T (AFG3L2)	ENSP00000508998.1:n.*1771+10A>T
ENST00000687477.1:n.711+10A>T (AFG3L2)
ENST00000688199.1:c.2037+10A>T (AFG3L2)	ENSP00000510237.1:n.2037+10A>T
ENST00000691179.1:c.2100+10A>T (AFG3L2)	ENSP00000509010.1:n.2100+10A>T
ENST00000691970.1:c.*1552+10A>T (AFG3L2)	ENSP00000508440.1:n.*1552+10A>T
ENST00000692497.1:c.*605+10A>T (AFG3L2)	ENSP00000509870.1:n.*605+10A>T
ENST00000692988.1:n.1993+10A>T (AFG3L2)
ENST00000269143.8:c.2175+10A>T (AFG3L2) MANE Select	ENSP00000269143.2:n.2175+10A>T
ENST00000269143.7:c.2175+10A>T (AFG3L2)	ENSP00000269143.2:n.2175+10A>T
ENST00000586691.1:c.88-6718T>A (TUBB6)
NM_006796.2:c.2175+10A>T , LRG_666t1:c.2175+10A>T (AFG3L2)	NP_006787.2:n.2175+10A>T
XM_011525601.1:c.1974+10A>T (AFG3L2)	XP_011523903.1:n.1974+10A>T
XM_011525601.3:c.1974+10A>T (AFG3L2)	XP_011523903.1:n.1974+10A>T
XR_002958227.1:n.451+429T>A
NM_006796.3:c.2175+10A>T (AFG3L2) MANE Select	NP_006787.2:n.2175+10A>T