Canonical Allele Identifier: CA363175173

Gene: VARS2

Linked Data

• MyVariant Identifiers: chr6:g.30890939G>T (hg19) ; chr6:g.30923162G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923162G>T , CM000668.2:g.30923162G>T	GRCh38
NC_000006.11:g.30890939G>T , CM000668.1:g.30890939G>T	GRCh37
NC_000006.10:g.30998918G>T	NCBI36
NG_034224.1:g.13955G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2244G>T	ENSP00000441000.2:p.Lys748Asn
ENST00000672801.1:c.2238G>T	ENSP00000500615.1:p.Lys746Asn
ENST00000676266.1:c.2244G>T MANE Select	ENSP00000502585.1:p.Lys748Asn
ENST00000321897.9:c.2244G>T	ENSP00000316092.5:p.Lys748Asn
ENST00000469358.5:n.2232G>T
ENST00000476162.5:n.1031G>T
ENST00000477052.1:n.330G>T
ENST00000477288.5:n.4857G>T
ENST00000541562.5:c.2334G>T	ENSP00000441000.1:p.Lys778Asn
ENST00000542001.5:c.2238G>T	ENSP00000438200.2:p.Lys746Asn
ENST00000625423.2:c.1824G>T	ENSP00000485818.1:p.Lys608Asn
NM_001167733.2:c.1824G>T	NP_001161205.1:p.Lys608Asn
NM_001167734.1:c.2334G>T	NP_001161206.1:p.Lys778Asn
NM_020442.5:c.2244G>T	NP_065175.4:p.Lys748Asn
NM_001167733.3:c.1824G>T	NP_001161205.1:p.Lys608Asn
NM_001167734.2:c.2334G>T	NP_001161206.1:p.Lys778Asn
NM_020442.6:c.2244G>T MANE Select	NP_065175.4:p.Lys748Asn