Canonical Allele Identifier: CA449586651

Gene: VARS2

Linked Data

• MyVariant Identifiers: chr6:g.30891280C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923503C>T , CM000668.2:g.30923503C>T	GRCh38
NC_000006.11:g.30891280C>T , CM000668.1:g.30891280C>T	GRCh37
NC_000006.10:g.30999259C>T	NCBI36
NG_034224.1:g.14296C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2464C>T	ENSP00000441000.2:p.Leu822=
ENST00000672801.1:c.2458C>T	ENSP00000500615.1:p.Leu820=
ENST00000676266.1:c.2464C>T MANE Select	ENSP00000502585.1:p.Leu822=
ENST00000321897.9:c.2464C>T	ENSP00000316092.5:p.Leu822=
ENST00000469358.5:n.2452C>T
ENST00000473916.1:n.175C>T
ENST00000476162.5:n.1251C>T
ENST00000477052.1:n.550C>T
ENST00000477288.5:n.5077C>T
ENST00000541562.5:c.2554C>T	ENSP00000441000.1:p.Leu852=
ENST00000542001.5:c.2458C>T	ENSP00000438200.2:p.Leu820=
ENST00000625423.2:c.2044C>T	ENSP00000485818.1:p.Leu682=
NM_001167733.2:c.2044C>T	NP_001161205.1:p.Leu682=
NM_001167734.1:c.2554C>T	NP_001161206.1:p.Leu852=
NM_020442.5:c.2464C>T	NP_065175.4:p.Leu822=
NM_001167733.3:c.2044C>T	NP_001161205.1:p.Leu682=
NM_001167734.2:c.2554C>T	NP_001161206.1:p.Leu852=
NM_020442.6:c.2464C>T MANE Select	NP_065175.4:p.Leu822=