Canonical Allele Identifier: CA215015

Gene: VARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30918886G>A , CM000668.2:g.30918886G>A	GRCh38
NC_000006.11:g.30886663G>A , CM000668.1:g.30886663G>A	GRCh37
NC_000006.10:g.30994642G>A	NCBI36
NG_034224.1:g.9679G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020442.6:c.1045G>A MANE Select	NP_065175.4:p.Ala349Thr
ENST00000676266.1:c.1045G>A MANE Select	ENSP00000502585.1:p.Ala349Thr
NM_001167733.2:c.625G>A	NP_001161205.1:p.Ala209Thr
NM_001167733.3:c.625G>A	NP_001161205.1:p.Ala209Thr
NM_001167734.1:c.1135G>A	NP_001161206.1:p.Ala379Thr
NM_001167734.2:c.1135G>A	NP_001161206.1:p.Ala379Thr
NM_020442.5:c.1045G>A	NP_065175.4:p.Ala349Thr
ENST00000321897.9:c.1045G>A	ENSP00000316092.5:p.Ala349Thr
ENST00000469358.5:n.123G>A
ENST00000477288.5:n.3658G>A
ENST00000541562.5:c.1135G>A	ENSP00000441000.1:p.Ala379Thr
ENST00000541562.6:c.1045G>A	ENSP00000441000.2:p.Ala349Thr
ENST00000542001.5:c.1045G>A	ENSP00000438200.2:p.Ala349Thr
ENST00000625423.2:c.625G>A	ENSP00000485818.1:p.Ala209Thr
ENST00000672801.1:c.1045G>A	ENSP00000500615.1:p.Ala349Thr