Canonical Allele Identifier: CA915282063

Gene: VARS2

Linked Data

• dbSNP Id: rs1562461500
• gnomAD v2: 6-30891298-GGA-G
• gnomAD v3: 6-30923521-GGA-G
• gnomAD v4: 6-30923521-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923523_30923524del , CM000668.2:g.30923523_30923524del	GRCh38
NC_000006.11:g.30891300_30891301del , CM000668.1:g.30891300_30891301del	GRCh37
NC_000006.10:g.30999279_30999280del	NCBI36
NG_034224.1:g.14316_14317del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2466+18_2466+19del	ENSP00000441000.2:n.2466+18_2466+19del
ENST00000672801.1:c.2460+18_2460+19del	ENSP00000500615.1:n.2460+18_2460+19del
ENST00000676266.1:c.2466+18_2466+19del MANE Select	ENSP00000502585.1:n.2466+18_2466+19del
ENST00000321897.9:c.2466+18_2466+19del	ENSP00000316092.5:n.2466+18_2466+19del
ENST00000469358.5:n.2454+18_2454+19del
ENST00000473916.1:n.195_196del
ENST00000476162.5:n.1253+18_1253+19del
ENST00000477288.5:n.5079+18_5079+19del
ENST00000541562.5:c.2556+18_2556+19del	ENSP00000441000.1:n.2556+18_2556+19del
ENST00000542001.5:c.2460+18_2460+19del	ENSP00000438200.2:n.2460+18_2460+19del
ENST00000625423.2:c.2046+18_2046+19del	ENSP00000485818.1:n.2046+18_2046+19del
NM_001167733.2:c.2046+18_2046+19del	NP_001161205.1:n.2046+18_2046+19del
NM_001167734.1:c.2556+18_2556+19del	NP_001161206.1:n.2556+18_2556+19del
NM_020442.5:c.2466+18_2466+19del	NP_065175.4:n.2466+18_2466+19del
NM_001167733.3:c.2046+18_2046+19del	NP_001161205.1:n.2046+18_2046+19del
NM_001167734.2:c.2556+18_2556+19del	NP_001161206.1:n.2556+18_2556+19del
NM_020442.6:c.2466+18_2466+19del MANE Select	NP_065175.4:n.2466+18_2466+19del