Canonical Allele Identifier: CA987912467

Gene: AFG3L2 TUBB6

Linked Data

• dbSNP Id: rs1907778060
• gnomAD v3: 18-12337305-A-G
• gnomAD v4: 18-12337305-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337305A>G , CM000680.2:g.12337305A>G	GRCh38
NC_000018.9:g.12337304A>G , CM000680.1:g.12337304A>G	GRCh37
NC_000018.8:g.12327304A>G	NCBI36
NG_023361.1:g.44972T>C , LRG_666:g.44972T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1771+36T>C (AFG3L2)	ENSP00000508998.1:n.*1771+36T>C
ENST00000687477.1:n.711+36T>C (AFG3L2)
ENST00000688199.1:c.2037+36T>C (AFG3L2)	ENSP00000510237.1:n.2037+36T>C
ENST00000691179.1:c.2100+36T>C (AFG3L2)	ENSP00000509010.1:n.2100+36T>C
ENST00000691970.1:c.*1552+36T>C (AFG3L2)	ENSP00000508440.1:n.*1552+36T>C
ENST00000692497.1:c.*605+36T>C (AFG3L2)	ENSP00000509870.1:n.*605+36T>C
ENST00000692988.1:n.1993+36T>C (AFG3L2)
ENST00000269143.8:c.2175+36T>C (AFG3L2) MANE Select	ENSP00000269143.2:n.2175+36T>C
ENST00000269143.7:c.2175+36T>C (AFG3L2)	ENSP00000269143.2:n.2175+36T>C
ENST00000586691.1:c.88-6744A>G (TUBB6)
NM_006796.2:c.2175+36T>C , LRG_666t1:c.2175+36T>C (AFG3L2)	NP_006787.2:n.2175+36T>C
XM_011525601.1:c.1974+36T>C (AFG3L2)	XP_011523903.1:n.1974+36T>C
XM_011525601.3:c.1974+36T>C (AFG3L2)	XP_011523903.1:n.1974+36T>C
XR_002958227.1:n.451+403A>G
NM_006796.3:c.2175+36T>C (AFG3L2) MANE Select	NP_006787.2:n.2175+36T>C