Canonical Allele Identifier: CA401943654

Gene: AFG3L2 TUBB6

Linked Data

• dbSNP Id: rs1427649172
• gnomAD v2: 18-12337363-C-G
• gnomAD v4: 18-12337364-C-G
• MyVariant Identifiers: chr18:g.12337363C>G (hg19) ; chr18:g.12337364C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337364C>G , CM000680.2:g.12337364C>G	GRCh38
NC_000018.9:g.12337363C>G , CM000680.1:g.12337363C>G	GRCh37
NC_000018.8:g.12327363C>G	NCBI36
NG_023361.1:g.44913G>C , LRG_666:g.44913G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1748G>C (AFG3L2)	ENSP00000508998.1:n.*1748G>C
ENST00000687477.1:n.688G>C (AFG3L2)
ENST00000688199.1:c.2014G>C (AFG3L2)	ENSP00000510237.1:p.Glu672Gln
ENST00000691179.1:c.2077G>C (AFG3L2)	ENSP00000509010.1:p.Glu693Gln
ENST00000691970.1:c.*1529G>C (AFG3L2)	ENSP00000508440.1:n.*1529G>C
ENST00000692497.1:c.*582G>C (AFG3L2)	ENSP00000509870.1:n.*582G>C
ENST00000692988.1:n.1970G>C (AFG3L2)
ENST00000269143.8:c.2152G>C (AFG3L2) MANE Select	ENSP00000269143.2:p.Glu718Gln
ENST00000269143.7:c.2152G>C (AFG3L2)	ENSP00000269143.2:p.Glu718Gln
ENST00000586691.1:c.88-6685C>G (TUBB6)
NM_006796.2:c.2152G>C , LRG_666t1:c.2152G>C (AFG3L2)	NP_006787.2:p.Glu718Gln
XM_011525601.1:c.1951G>C (AFG3L2)	XP_011523903.1:p.Glu651Gln
XM_011525601.3:c.1951G>C (AFG3L2)	XP_011523903.1:p.Glu651Gln
XR_002958227.1:n.451+462C>G
NM_006796.3:c.2152G>C (AFG3L2) MANE Select	NP_006787.2:p.Glu718Gln