Canonical Allele Identifier: CA401944370

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12337516T>A (hg19) ; chr18:g.12337517T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337517T>A , CM000680.2:g.12337517T>A	GRCh38
NC_000018.9:g.12337516T>A , CM000680.1:g.12337516T>A	GRCh37
NC_000018.8:g.12327516T>A	NCBI36
NG_023361.1:g.44760A>T , LRG_666:g.44760A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1595A>T (AFG3L2)	ENSP00000508998.1:n.*1595A>T
ENST00000687477.1:n.535A>T (AFG3L2)
ENST00000688199.1:c.1861A>T (AFG3L2)	ENSP00000510237.1:p.Asn621Tyr
ENST00000691179.1:c.1924A>T (AFG3L2)	ENSP00000509010.1:p.Asn642Tyr
ENST00000691970.1:c.*1376A>T (AFG3L2)	ENSP00000508440.1:n.*1376A>T
ENST00000692497.1:c.*429A>T (AFG3L2)	ENSP00000509870.1:n.*429A>T
ENST00000692988.1:n.1817A>T (AFG3L2)
ENST00000269143.8:c.1999A>T (AFG3L2) MANE Select	ENSP00000269143.2:p.Asn667Tyr
ENST00000269143.7:c.1999A>T (AFG3L2)	ENSP00000269143.2:p.Asn667Tyr
ENST00000586691.1:c.88-6532T>A (TUBB6)
NM_006796.2:c.1999A>T , LRG_666t1:c.1999A>T (AFG3L2)	NP_006787.2:p.Asn667Tyr
XM_011525601.1:c.1798A>T (AFG3L2)	XP_011523903.1:p.Asn600Tyr
XM_011525601.3:c.1798A>T (AFG3L2)	XP_011523903.1:p.Asn600Tyr
XR_002958227.1:n.451+615T>A
NM_006796.3:c.1999A>T (AFG3L2) MANE Select	NP_006787.2:p.Asn667Tyr