Canonical Allele Identifier: CA566687732

Gene: VARS2

Linked Data

• dbSNP Id: rs1361907804
• gnomAD v2: 6-30891248-ACTTCTGG-A
• gnomAD v4: 6-30923471-ACTTCTGG-A
• MyVariant Identifiers: chr6:g.30891249_30891255del (hg19) ; chr6:g.30923472_30923478del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923476_30923482del , CM000668.2:g.30923476_30923482del	GRCh38
NC_000006.11:g.30891253_30891259del , CM000668.1:g.30891253_30891259del	GRCh37
NC_000006.10:g.30999232_30999238del	NCBI36
NG_034224.1:g.14269_14275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2437_2443del	ENSP00000441000.2:p.Trp813ThrfsTer11
ENST00000672801.1:c.2431_2437del	ENSP00000500615.1:p.Trp811ThrfsTer11
ENST00000676266.1:c.2437_2443del MANE Select	ENSP00000502585.1:p.Trp813ThrfsTer11
ENST00000321897.9:c.2437_2443del	ENSP00000316092.5:p.Trp813ThrfsTer11
ENST00000469358.5:n.2425_2431del
ENST00000473916.1:n.148_154del
ENST00000476162.5:n.1224_1230del
ENST00000477052.1:n.523_529del
ENST00000477288.5:n.5050_5056del
ENST00000541562.5:c.2527_2533del	ENSP00000441000.1:p.Trp843ThrfsTer11
ENST00000542001.5:c.2431_2437del	ENSP00000438200.2:p.Trp811ThrfsTer11
ENST00000625423.2:c.2017_2023del	ENSP00000485818.1:p.Trp673ThrfsTer11
NM_001167733.2:c.2017_2023del	NP_001161205.1:p.Trp673ThrfsTer11
NM_001167734.1:c.2527_2533del	NP_001161206.1:p.Trp843ThrfsTer11
NM_020442.5:c.2437_2443del	NP_065175.4:p.Trp813ThrfsTer11
NM_001167733.3:c.2017_2023del	NP_001161205.1:p.Trp673ThrfsTer11
NM_001167734.2:c.2527_2533del	NP_001161206.1:p.Trp843ThrfsTer11
NM_020442.6:c.2437_2443del MANE Select	NP_065175.4:p.Trp813ThrfsTer11