Canonical Allele Identifier: CA363175792

Gene: VARS2

Linked Data

• gnomAD v4: 6-30923478-G-T
• MyVariant Identifiers: chr6:g.30891255G>T (hg19) ; chr6:g.30923478G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923478G>T , CM000668.2:g.30923478G>T	GRCh38
NC_000006.11:g.30891255G>T , CM000668.1:g.30891255G>T	GRCh37
NC_000006.10:g.30999234G>T	NCBI36
NG_034224.1:g.14271G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2439G>T	ENSP00000441000.2:p.Trp813Cys
ENST00000672801.1:c.2433G>T	ENSP00000500615.1:p.Trp811Cys
ENST00000676266.1:c.2439G>T MANE Select	ENSP00000502585.1:p.Trp813Cys
ENST00000321897.9:c.2439G>T	ENSP00000316092.5:p.Trp813Cys
ENST00000469358.5:n.2427G>T
ENST00000473916.1:n.150G>T
ENST00000476162.5:n.1226G>T
ENST00000477052.1:n.525G>T
ENST00000477288.5:n.5052G>T
ENST00000541562.5:c.2529G>T	ENSP00000441000.1:p.Trp843Cys
ENST00000542001.5:c.2433G>T	ENSP00000438200.2:p.Trp811Cys
ENST00000625423.2:c.2019G>T	ENSP00000485818.1:p.Trp673Cys
NM_001167733.2:c.2019G>T	NP_001161205.1:p.Trp673Cys
NM_001167734.1:c.2529G>T	NP_001161206.1:p.Trp843Cys
NM_020442.5:c.2439G>T	NP_065175.4:p.Trp813Cys
NM_001167733.3:c.2019G>T	NP_001161205.1:p.Trp673Cys
NM_001167734.2:c.2529G>T	NP_001161206.1:p.Trp843Cys
NM_020442.6:c.2439G>T MANE Select	NP_065175.4:p.Trp813Cys