Canonical Allele Identifier: CA8896306

Gene: AFG3L2 TUBB6

Linked Data

• dbSNP Id: rs772904717
• ExAC: 18:12337393 CAT / C
• gnomAD v2: 18-12337393-CAT-C
• gnomAD v4: 18-12337394-CAT-C
• MyVariant Identifiers: chr18:g.12337394_12337395del (hg19) ; chr18:g.12337395_12337396del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337395_12337396del , CM000680.2:g.12337395_12337396del	GRCh38
NC_000018.9:g.12337394_12337395del , CM000680.1:g.12337394_12337395del	GRCh37
NC_000018.8:g.12327394_12327395del	NCBI36
NG_023361.1:g.44881_44882del , LRG_666:g.44881_44882del

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1716_*1717del (AFG3L2)	ENSP00000508998.1:n.*1716_*1717del
ENST00000687477.1:n.656_657del (AFG3L2)
ENST00000688199.1:c.1982_1983del (AFG3L2)	ENSP00000510237.1:p.Asp661GlyfsTer3
ENST00000691179.1:c.2045_2046del (AFG3L2)	ENSP00000509010.1:p.Asp682GlyfsTer3
ENST00000691970.1:c.*1497_*1498del (AFG3L2)	ENSP00000508440.1:n.*1497_*1498del
ENST00000692497.1:c.*550_*551del (AFG3L2)	ENSP00000509870.1:n.*550_*551del
ENST00000692988.1:n.1938_1939del (AFG3L2)
ENST00000269143.8:c.2120_2121del (AFG3L2) MANE Select	ENSP00000269143.2:p.Asp707GlyfsTer3
ENST00000269143.7:c.2120_2121del (AFG3L2)	ENSP00000269143.2:p.Asp707GlyfsTer3
ENST00000586691.1:c.88-6654_88-6653del (TUBB6)
NM_006796.2:c.2120_2121del , LRG_666t1:c.2120_2121del (AFG3L2)	NP_006787.2:p.Asp707GlyfsTer3
XM_011525601.1:c.1919_1920del (AFG3L2)	XP_011523903.1:p.Asp640GlyfsTer3
XM_011525601.3:c.1919_1920del (AFG3L2)	XP_011523903.1:p.Asp640GlyfsTer3
XR_002958227.1:n.451+493_451+494del
NM_006796.3:c.2120_2121del (AFG3L2) MANE Select	NP_006787.2:p.Asp707GlyfsTer3