Canonical Allele Identifier: CA363175454

Gene: VARS2

Linked Data

• dbSNP Id: rs2150566730
• gnomAD v4: 6-30923407-G-T
• MyVariant Identifiers: chr6:g.30891184G>T (hg19) ; chr6:g.30923407G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923407G>T , CM000668.2:g.30923407G>T	GRCh38
NC_000006.11:g.30891184G>T , CM000668.1:g.30891184G>T	GRCh37
NC_000006.10:g.30999163G>T	NCBI36
NG_034224.1:g.14200G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2368G>T	ENSP00000441000.2:p.Ala790Ser
ENST00000672801.1:c.2362G>T	ENSP00000500615.1:p.Ala788Ser
ENST00000676266.1:c.2368G>T MANE Select	ENSP00000502585.1:p.Ala790Ser
ENST00000321897.9:c.2368G>T	ENSP00000316092.5:p.Ala790Ser
ENST00000469358.5:n.2356G>T
ENST00000473916.1:n.79G>T
ENST00000476162.5:n.1155G>T
ENST00000477052.1:n.454G>T
ENST00000477288.5:n.4981G>T
ENST00000541562.5:c.2458G>T	ENSP00000441000.1:p.Ala820Ser
ENST00000542001.5:c.2362G>T	ENSP00000438200.2:p.Ala788Ser
ENST00000625423.2:c.1948G>T	ENSP00000485818.1:p.Ala650Ser
NM_001167733.2:c.1948G>T	NP_001161205.1:p.Ala650Ser
NM_001167734.1:c.2458G>T	NP_001161206.1:p.Ala820Ser
NM_020442.5:c.2368G>T	NP_065175.4:p.Ala790Ser
NM_001167733.3:c.1948G>T	NP_001161205.1:p.Ala650Ser
NM_001167734.2:c.2458G>T	NP_001161206.1:p.Ala820Ser
NM_020442.6:c.2368G>T MANE Select	NP_065175.4:p.Ala790Ser