Canonical Allele Identifier: CA136811627

Gene: VARS2

Linked Data

• dbSNP Id: rs926248161
• gnomAD v2: 6-30890877-C-T
• gnomAD v4: 6-30923100-C-T
• MyVariant Identifiers: chr6:g.30890877C>T (hg19) ; chr6:g.30923100C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923100C>T , CM000668.2:g.30923100C>T	GRCh38
NC_000006.11:g.30890877C>T , CM000668.1:g.30890877C>T	GRCh37
NC_000006.10:g.30998856C>T	NCBI36
NG_034224.1:g.13893C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2186-4C>T	ENSP00000441000.2:n.2186-4C>T
ENST00000672801.1:c.2180-4C>T	ENSP00000500615.1:n.2180-4C>T
ENST00000676266.1:c.2186-4C>T MANE Select	ENSP00000502585.1:n.2186-4C>T
ENST00000321897.9:c.2186-4C>T	ENSP00000316092.5:n.2186-4C>T
ENST00000469358.5:n.2174-4C>T
ENST00000476162.5:n.973-4C>T
ENST00000477052.1:n.272-4C>T
ENST00000477288.5:n.4799-4C>T
ENST00000541562.5:c.2276-4C>T	ENSP00000441000.1:n.2276-4C>T
ENST00000542001.5:c.2180-4C>T	ENSP00000438200.2:n.2180-4C>T
ENST00000625423.2:c.1766-4C>T	ENSP00000485818.1:n.1766-4C>T
NM_001167733.2:c.1766-4C>T	NP_001161205.1:n.1766-4C>T
NM_001167734.1:c.2276-4C>T	NP_001161206.1:n.2276-4C>T
NM_020442.5:c.2186-4C>T	NP_065175.4:n.2186-4C>T
NM_001167733.3:c.1766-4C>T	NP_001161205.1:n.1766-4C>T
NM_001167734.2:c.2276-4C>T	NP_001161206.1:n.2276-4C>T
NM_020442.6:c.2186-4C>T MANE Select	NP_065175.4:n.2186-4C>T