Canonical Allele Identifier: CA363175090

Gene: VARS2

Linked Data

• gnomAD v4: 6-30923127-T-C
• MyVariant Identifiers: chr6:g.30890904T>C (hg19) ; chr6:g.30923127T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923127T>C , CM000668.2:g.30923127T>C	GRCh38
NC_000006.11:g.30890904T>C , CM000668.1:g.30890904T>C	GRCh37
NC_000006.10:g.30998883T>C	NCBI36
NG_034224.1:g.13920T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2209T>C	ENSP00000441000.2:p.Ser737Pro
ENST00000672801.1:c.2203T>C	ENSP00000500615.1:p.Ser735Pro
ENST00000676266.1:c.2209T>C MANE Select	ENSP00000502585.1:p.Ser737Pro
ENST00000321897.9:c.2209T>C	ENSP00000316092.5:p.Ser737Pro
ENST00000469358.5:n.2197T>C
ENST00000476162.5:n.996T>C
ENST00000477052.1:n.295T>C
ENST00000477288.5:n.4822T>C
ENST00000541562.5:c.2299T>C	ENSP00000441000.1:p.Ser767Pro
ENST00000542001.5:c.2203T>C	ENSP00000438200.2:p.Ser735Pro
ENST00000625423.2:c.1789T>C	ENSP00000485818.1:p.Ser597Pro
NM_001167733.2:c.1789T>C	NP_001161205.1:p.Ser597Pro
NM_001167734.1:c.2299T>C	NP_001161206.1:p.Ser767Pro
NM_020442.5:c.2209T>C	NP_065175.4:p.Ser737Pro
NM_001167733.3:c.1789T>C	NP_001161205.1:p.Ser597Pro
NM_001167734.2:c.2299T>C	NP_001161206.1:p.Ser767Pro
NM_020442.6:c.2209T>C MANE Select	NP_065175.4:p.Ser737Pro