Canonical Allele Identifier: CA401944160

Gene: AFG3L2 TUBB6

Linked Data

• dbSNP Id: rs1383634575
• gnomAD v2: 18-12337471-C-T
• gnomAD v4: 18-12337472-C-T
• MyVariant Identifiers: chr18:g.12337471C>T (hg19) ; chr18:g.12337472C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337472C>T , CM000680.2:g.12337472C>T	GRCh38
NC_000018.9:g.12337471C>T , CM000680.1:g.12337471C>T	GRCh37
NC_000018.8:g.12327471C>T	NCBI36
NG_023361.1:g.44805G>A , LRG_666:g.44805G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1640G>A (AFG3L2)	ENSP00000508998.1:n.*1640G>A
ENST00000687477.1:n.580G>A (AFG3L2)
ENST00000688199.1:c.1906G>A (AFG3L2)	ENSP00000510237.1:p.Asp636Asn
ENST00000691179.1:c.1969G>A (AFG3L2)	ENSP00000509010.1:p.Asp657Asn
ENST00000691970.1:c.*1421G>A (AFG3L2)	ENSP00000508440.1:n.*1421G>A
ENST00000692497.1:c.*474G>A (AFG3L2)	ENSP00000509870.1:n.*474G>A
ENST00000692988.1:n.1862G>A (AFG3L2)
ENST00000269143.8:c.2044G>A (AFG3L2) MANE Select	ENSP00000269143.2:p.Asp682Asn
ENST00000269143.7:c.2044G>A (AFG3L2)	ENSP00000269143.2:p.Asp682Asn
ENST00000586691.1:c.88-6577C>T (TUBB6)
NM_006796.2:c.2044G>A , LRG_666t1:c.2044G>A (AFG3L2)	NP_006787.2:p.Asp682Asn
XM_011525601.1:c.1843G>A (AFG3L2)	XP_011523903.1:p.Asp615Asn
XM_011525601.3:c.1843G>A (AFG3L2)	XP_011523903.1:p.Asp615Asn
XR_002958227.1:n.451+570C>T
NM_006796.3:c.2044G>A (AFG3L2) MANE Select	NP_006787.2:p.Asp682Asn