Canonical Allele Identifier: CA401944431

Gene: AFG3L2 TUBB6

Linked Data

• gnomAD v4: 18-12337531-A-G
• MyVariant Identifiers: chr18:g.12337530A>G (hg19) ; chr18:g.12337531A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337531A>G , CM000680.2:g.12337531A>G	GRCh38
NC_000018.9:g.12337530A>G , CM000680.1:g.12337530A>G	GRCh37
NC_000018.8:g.12327530A>G	NCBI36
NG_023361.1:g.44746T>C , LRG_666:g.44746T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1581T>C (AFG3L2)	ENSP00000508998.1:n.*1581T>C
ENST00000687477.1:n.521T>C (AFG3L2)
ENST00000688199.1:c.1847T>C (AFG3L2)	ENSP00000510237.1:p.Val616Ala
ENST00000691179.1:c.1910T>C (AFG3L2)	ENSP00000509010.1:p.Val637Ala
ENST00000691970.1:c.*1362T>C (AFG3L2)	ENSP00000508440.1:n.*1362T>C
ENST00000692497.1:c.*415T>C (AFG3L2)	ENSP00000509870.1:n.*415T>C
ENST00000692988.1:n.1803T>C (AFG3L2)
ENST00000269143.8:c.1985T>C (AFG3L2) MANE Select	ENSP00000269143.2:p.Val662Ala
ENST00000269143.7:c.1985T>C (AFG3L2)	ENSP00000269143.2:p.Val662Ala
ENST00000586691.1:c.88-6518A>G (TUBB6)
NM_006796.2:c.1985T>C , LRG_666t1:c.1985T>C (AFG3L2)	NP_006787.2:p.Val662Ala
XM_011525601.1:c.1784T>C (AFG3L2)	XP_011523903.1:p.Val595Ala
XM_011525601.3:c.1784T>C (AFG3L2)	XP_011523903.1:p.Val595Ala
XR_002958227.1:n.451+629A>G
NM_006796.3:c.1985T>C (AFG3L2) MANE Select	NP_006787.2:p.Val662Ala