Canonical Allele Identifier: CA776238512

Gene: AFG3L2 TUBB6

Linked Data

• dbSNP Id: rs1186089864
• gnomAD v3: 18-12337776-CTCTT-C
• gnomAD v4: 18-12337776-CTCTT-C
• MyVariant Identifiers: chr18:g.12337776_12337779del (hg19) ; chr18:g.12337777_12337780del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337778_12337781del , CM000680.2:g.12337778_12337781del	GRCh38
NC_000018.9:g.12337777_12337780del , CM000680.1:g.12337777_12337780del	GRCh37
NC_000018.8:g.12327777_12327780del	NCBI36
NG_023361.1:g.44497_44500del , LRG_666:g.44497_44500del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-245_*1577-242del (AFG3L2)	ENSP00000508998.1:n.*1577-245_*1577-242del
ENST00000687477.1:n.517-245_517-242del (AFG3L2)
ENST00000688199.1:c.1843-245_1843-242del (AFG3L2)	ENSP00000510237.1:n.1843-245_1843-242del
ENST00000691179.1:c.1906-245_1906-242del (AFG3L2)	ENSP00000509010.1:n.1906-245_1906-242del
ENST00000691970.1:c.*1358-245_*1358-242del (AFG3L2)	ENSP00000508440.1:n.*1358-245_*1358-242del
ENST00000692497.1:c.*411-245_*411-242del (AFG3L2)	ENSP00000509870.1:n.*411-245_*411-242del
ENST00000692988.1:n.1799-245_1799-242del (AFG3L2)
ENST00000269143.8:c.1981-245_1981-242del (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-245_1981-242del
ENST00000269143.7:c.1981-245_1981-242del (AFG3L2)	ENSP00000269143.2:n.1981-245_1981-242del
ENST00000586691.1:c.88-6271_88-6268del (TUBB6)
NM_006796.2:c.1981-245_1981-242del , LRG_666t1:c.1981-245_1981-242del (AFG3L2)	NP_006787.2:n.1981-245_1981-242del
XM_011525601.1:c.1780-245_1780-242del (AFG3L2)	XP_011523903.1:n.1780-245_1780-242del
XM_011525601.3:c.1780-245_1780-242del (AFG3L2)	XP_011523903.1:n.1780-245_1780-242del
XR_002958227.1:n.451+876_451+879del
NM_006796.3:c.1981-245_1981-242del (AFG3L2) MANE Select	NP_006787.2:n.1981-245_1981-242del