Canonical Allele Identifier: CA2590225713

Gene: AFG3L2 TUBB6

Linked Data

• dbSNP Id: rs2143113129
• gnomAD v3: 18-12337757-A-G
• gnomAD v4: 18-12337757-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337757A>G , CM000680.2:g.12337757A>G	GRCh38
NC_000018.9:g.12337756A>G , CM000680.1:g.12337756A>G	GRCh37
NC_000018.8:g.12327756A>G	NCBI36
NG_023361.1:g.44520T>C , LRG_666:g.44520T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-222T>C (AFG3L2)	ENSP00000508998.1:n.*1577-222T>C
ENST00000687477.1:n.517-222T>C (AFG3L2)
ENST00000688199.1:c.1843-222T>C (AFG3L2)	ENSP00000510237.1:n.1843-222T>C
ENST00000691179.1:c.1906-222T>C (AFG3L2)	ENSP00000509010.1:n.1906-222T>C
ENST00000691970.1:c.*1358-222T>C (AFG3L2)	ENSP00000508440.1:n.*1358-222T>C
ENST00000692497.1:c.*411-222T>C (AFG3L2)	ENSP00000509870.1:n.*411-222T>C
ENST00000692988.1:n.1799-222T>C (AFG3L2)
ENST00000269143.8:c.1981-222T>C (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-222T>C
ENST00000269143.7:c.1981-222T>C (AFG3L2)	ENSP00000269143.2:n.1981-222T>C
ENST00000586691.1:c.88-6292A>G (TUBB6)
NM_006796.2:c.1981-222T>C , LRG_666t1:c.1981-222T>C (AFG3L2)	NP_006787.2:n.1981-222T>C
XM_011525601.1:c.1780-222T>C (AFG3L2)	XP_011523903.1:n.1780-222T>C
XM_011525601.3:c.1780-222T>C (AFG3L2)	XP_011523903.1:n.1780-222T>C
XR_002958227.1:n.451+855A>G
NM_006796.3:c.1981-222T>C (AFG3L2) MANE Select	NP_006787.2:n.1981-222T>C