Canonical Allele Identifier: CA776238511

Gene: AFG3L2 TUBB6

Linked Data

• dbSNP Id: rs1368333419
• MyVariant Identifiers: chr18:g.12337772_12337773del (hg19) ; chr18:g.12337773_12337774del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337778_12337779del , CM000680.2:g.12337778_12337779del	GRCh38
NC_000018.9:g.12337777_12337778del , CM000680.1:g.12337777_12337778del	GRCh37
NC_000018.8:g.12327777_12327778del	NCBI36
NG_023361.1:g.44503_44504del , LRG_666:g.44503_44504del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-239_*1577-238del (AFG3L2)	ENSP00000508998.1:n.*1577-239_*1577-238del
ENST00000687477.1:n.517-239_517-238del (AFG3L2)
ENST00000688199.1:c.1843-239_1843-238del (AFG3L2)	ENSP00000510237.1:n.1843-239_1843-238del
ENST00000691179.1:c.1906-239_1906-238del (AFG3L2)	ENSP00000509010.1:n.1906-239_1906-238del
ENST00000691970.1:c.*1358-239_*1358-238del (AFG3L2)	ENSP00000508440.1:n.*1358-239_*1358-238del
ENST00000692497.1:c.*411-239_*411-238del (AFG3L2)	ENSP00000509870.1:n.*411-239_*411-238del
ENST00000692988.1:n.1799-239_1799-238del (AFG3L2)
ENST00000269143.8:c.1981-239_1981-238del (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-239_1981-238del
ENST00000269143.7:c.1981-239_1981-238del (AFG3L2)	ENSP00000269143.2:n.1981-239_1981-238del
ENST00000586691.1:c.88-6271_88-6270del (TUBB6)
NM_006796.2:c.1981-239_1981-238del , LRG_666t1:c.1981-239_1981-238del (AFG3L2)	NP_006787.2:n.1981-239_1981-238del
XM_011525601.1:c.1780-239_1780-238del (AFG3L2)	XP_011523903.1:n.1780-239_1780-238del
XM_011525601.3:c.1780-239_1780-238del (AFG3L2)	XP_011523903.1:n.1780-239_1780-238del
XR_002958227.1:n.451+876_451+877del
NM_006796.3:c.1981-239_1981-238del (AFG3L2) MANE Select	NP_006787.2:n.1981-239_1981-238del