Canonical Allele Identifier: CA363175620

Gene: VARS2

Linked Data

• dbSNP Id: rs1234243895
• gnomAD v4: 6-30923443-C-T
• MyVariant Identifiers: chr6:g.30891220C>T (hg19) ; chr6:g.30923443C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923443C>T , CM000668.2:g.30923443C>T	GRCh38
NC_000006.11:g.30891220C>T , CM000668.1:g.30891220C>T	GRCh37
NC_000006.10:g.30999199C>T	NCBI36
NG_034224.1:g.14236C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2404C>T	ENSP00000441000.2:p.Leu802Phe
ENST00000672801.1:c.2398C>T	ENSP00000500615.1:p.Leu800Phe
ENST00000676266.1:c.2404C>T MANE Select	ENSP00000502585.1:p.Leu802Phe
ENST00000321897.9:c.2404C>T	ENSP00000316092.5:p.Leu802Phe
ENST00000469358.5:n.2392C>T
ENST00000473916.1:n.115C>T
ENST00000476162.5:n.1191C>T
ENST00000477052.1:n.490C>T
ENST00000477288.5:n.5017C>T
ENST00000541562.5:c.2494C>T	ENSP00000441000.1:p.Leu832Phe
ENST00000542001.5:c.2398C>T	ENSP00000438200.2:p.Leu800Phe
ENST00000625423.2:c.1984C>T	ENSP00000485818.1:p.Leu662Phe
NM_001167733.2:c.1984C>T	NP_001161205.1:p.Leu662Phe
NM_001167734.1:c.2494C>T	NP_001161206.1:p.Leu832Phe
NM_020442.5:c.2404C>T	NP_065175.4:p.Leu802Phe
NM_001167733.3:c.1984C>T	NP_001161205.1:p.Leu662Phe
NM_001167734.2:c.2494C>T	NP_001161206.1:p.Leu832Phe
NM_020442.6:c.2404C>T MANE Select	NP_065175.4:p.Leu802Phe