Canonical Allele Identifier: CA628487323

Gene: AFG3L2 TUBB6

Linked Data

• dbSNP Id: rs1337892788
• gnomAD v2: 18-12337307-C-CTTTTTTT
• MyVariant Identifiers: chr18:g.12337307_12337308insTTTTTTT (hg19) ; chr18:g.12337308_12337309insTTTTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337309_12337310insTTTTTTT , CM000680.2:g.12337309_12337310insTTTTTTT	GRCh38
NC_000018.9:g.12337308_12337309insTTTTTTT , CM000680.1:g.12337308_12337309insTTTTTTT	GRCh37
NC_000018.8:g.12327308_12327309insTTTTTTT	NCBI36
NG_023361.1:g.44968_44969insAAAAAAA , LRG_666:g.44968_44969insAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1771+32_*1771+33insAAAAAAA (AFG3L2)	ENSP00000508998.1:n.*1771+32_*1771+33insAAAAAAA
ENST00000687477.1:n.711+32_711+33insAAAAAAA (AFG3L2)
ENST00000688199.1:c.2037+32_2037+33insAAAAAAA (AFG3L2)	ENSP00000510237.1:n.2037+32_2037+33insAAAAAAA
ENST00000691179.1:c.2100+32_2100+33insAAAAAAA (AFG3L2)	ENSP00000509010.1:n.2100+32_2100+33insAAAAAAA
ENST00000691970.1:c.*1552+32_*1552+33insAAAAAAA (AFG3L2)	ENSP00000508440.1:n.*1552+32_*1552+33insAAAAAAA
ENST00000692497.1:c.*605+32_*605+33insAAAAAAA (AFG3L2)	ENSP00000509870.1:n.*605+32_*605+33insAAAAAAA
ENST00000692988.1:n.1993+32_1993+33insAAAAAAA (AFG3L2)
ENST00000269143.8:c.2175+32_2175+33insAAAAAAA (AFG3L2) MANE Select	ENSP00000269143.2:n.2175+32_2175+33insAAAAAAA
ENST00000269143.7:c.2175+32_2175+33insAAAAAAA (AFG3L2)	ENSP00000269143.2:n.2175+32_2175+33insAAAAAAA
ENST00000586691.1:c.88-6740_88-6739insTTTTTTT (TUBB6)
NM_006796.2:c.2175+32_2175+33insAAAAAAA , LRG_666t1:c.2175+32_2175+33insAAAAAAA (AFG3L2)	NP_006787.2:n.2175+32_2175+33insAAAAAAA
XM_011525601.1:c.1974+32_1974+33insAAAAAAA (AFG3L2)	XP_011523903.1:n.1974+32_1974+33insAAAAAAA
XM_011525601.3:c.1974+32_1974+33insAAAAAAA (AFG3L2)	XP_011523903.1:n.1974+32_1974+33insAAAAAAA
XR_002958227.1:n.451+407_451+408insTTTTTTT
NM_006796.3:c.2175+32_2175+33insAAAAAAA (AFG3L2) MANE Select	NP_006787.2:n.2175+32_2175+33insAAAAAAA