Canonical Allele Identifier: CA401944363

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12337515T>G (hg19) ; chr18:g.12337516T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337516T>G , CM000680.2:g.12337516T>G	GRCh38
NC_000018.9:g.12337515T>G , CM000680.1:g.12337515T>G	GRCh37
NC_000018.8:g.12327515T>G	NCBI36
NG_023361.1:g.44761A>C , LRG_666:g.44761A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1596A>C (AFG3L2)	ENSP00000508998.1:n.*1596A>C
ENST00000687477.1:n.536A>C (AFG3L2)
ENST00000688199.1:c.1862A>C (AFG3L2)	ENSP00000510237.1:p.Asn621Thr
ENST00000691179.1:c.1925A>C (AFG3L2)	ENSP00000509010.1:p.Asn642Thr
ENST00000691970.1:c.*1377A>C (AFG3L2)	ENSP00000508440.1:n.*1377A>C
ENST00000692497.1:c.*430A>C (AFG3L2)	ENSP00000509870.1:n.*430A>C
ENST00000692988.1:n.1818A>C (AFG3L2)
ENST00000269143.8:c.2000A>C (AFG3L2) MANE Select	ENSP00000269143.2:p.Asn667Thr
ENST00000269143.7:c.2000A>C (AFG3L2)	ENSP00000269143.2:p.Asn667Thr
ENST00000586691.1:c.88-6533T>G (TUBB6)
NM_006796.2:c.2000A>C , LRG_666t1:c.2000A>C (AFG3L2)	NP_006787.2:p.Asn667Thr
XM_011525601.1:c.1799A>C (AFG3L2)	XP_011523903.1:p.Asn600Thr
XM_011525601.3:c.1799A>C (AFG3L2)	XP_011523903.1:p.Asn600Thr
XR_002958227.1:n.451+614T>G
NM_006796.3:c.2000A>C (AFG3L2) MANE Select	NP_006787.2:p.Asn667Thr