Canonical Allele Identifier: CA1618928406

Gene: VARS2

Linked Data

• dbSNP Id: rs1367094455
• gnomAD v4: 6-30923027-T-TGCAGGGGCAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923039_30923049dup , CM000668.2:g.30923039_30923049dup	GRCh38
NC_000006.11:g.30890816_30890826dup , CM000668.1:g.30890816_30890826dup	GRCh37
NC_000006.10:g.30998795_30998805dup	NCBI36
NG_034224.1:g.13832_13842dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2185+63_2186-55dup	ENSP00000441000.2:n.2185+63_2186-55dup
ENST00000672801.1:c.2179+63_2180-55dup	ENSP00000500615.1:n.2179+63_2180-55dup
ENST00000676266.1:c.2185+63_2186-55dup MANE Select	ENSP00000502585.1:n.2185+63_2186-55dup
ENST00000321897.9:c.2185+63_2186-55dup	ENSP00000316092.5:n.2185+63_2186-55dup
ENST00000469358.5:n.2173+63_2174-55dup
ENST00000476162.5:n.972+63_973-55dup
ENST00000477052.1:n.271+63_272-55dup
ENST00000477288.5:n.4798+63_4799-55dup
ENST00000541562.5:c.2275+63_2276-55dup	ENSP00000441000.1:n.2275+63_2276-55dup
ENST00000542001.5:c.2179+63_2180-55dup	ENSP00000438200.2:n.2179+63_2180-55dup
ENST00000625423.2:c.1765+63_1766-55dup	ENSP00000485818.1:n.1765+63_1766-55dup
NM_001167733.2:c.1765+63_1766-55dup	NP_001161205.1:n.1765+63_1766-55dup
NM_001167734.1:c.2275+63_2276-55dup	NP_001161206.1:n.2275+63_2276-55dup
NM_020442.5:c.2185+63_2186-55dup	NP_065175.4:n.2185+63_2186-55dup
NM_001167733.3:c.1765+63_1766-55dup	NP_001161205.1:n.1765+63_1766-55dup
NM_001167734.2:c.2275+63_2276-55dup	NP_001161206.1:n.2275+63_2276-55dup
NM_020442.6:c.2185+63_2186-55dup MANE Select	NP_065175.4:n.2185+63_2186-55dup