Canonical Allele Identifier: CA915952449

Gene: AFG3L2 TUBB6

Linked Data

• ClinVar Variation Id: 805325
• ClinVar RCV Id: RCV000992829
• dbSNP Id: rs1487683840

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337538G>T , CM000680.2:g.12337538G>T	GRCh38
NC_000018.9:g.12337537G>T , CM000680.1:g.12337537G>T	GRCh37
NC_000018.8:g.12327537G>T	NCBI36
NG_023361.1:g.44739C>A , LRG_666:g.44739C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-3C>A (AFG3L2)	ENSP00000508998.1:n.*1577-3C>A
ENST00000687477.1:n.517-3C>A (AFG3L2)
ENST00000688199.1:c.1843-3C>A (AFG3L2)	ENSP00000510237.1:n.1843-3C>A
ENST00000691179.1:c.1906-3C>A (AFG3L2)	ENSP00000509010.1:n.1906-3C>A
ENST00000691970.1:c.*1358-3C>A (AFG3L2)	ENSP00000508440.1:n.*1358-3C>A
ENST00000692497.1:c.*411-3C>A (AFG3L2)	ENSP00000509870.1:n.*411-3C>A
ENST00000692988.1:n.1799-3C>A (AFG3L2)
ENST00000269143.8:c.1981-3C>A (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-3C>A
ENST00000269143.7:c.1981-3C>A (AFG3L2)	ENSP00000269143.2:n.1981-3C>A
ENST00000586691.1:c.88-6511G>T (TUBB6)
NM_006796.2:c.1981-3C>A , LRG_666t1:c.1981-3C>A (AFG3L2)	NP_006787.2:n.1981-3C>A
XM_011525601.1:c.1780-3C>A (AFG3L2)	XP_011523903.1:n.1780-3C>A
XM_011525601.3:c.1780-3C>A (AFG3L2)	XP_011523903.1:n.1780-3C>A
XR_002958227.1:n.451+636G>T
NM_006796.3:c.1981-3C>A (AFG3L2) MANE Select	NP_006787.2:n.1981-3C>A