Canonical Allele Identifier: CA1618928603

Gene: VARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923471_30923478delinsACTTCTGG , CM000668.2:g.30923471_30923478delinsACTTCTGG	GRCh38
NC_000006.11:g.30891248_30891255delinsACTTCTGG , CM000668.1:g.30891248_30891255delinsACTTCTGG	GRCh37
NC_000006.10:g.30999227_30999234delinsACTTCTGG	NCBI36
NG_034224.1:g.14264_14271delinsACTTCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2432_2439delinsACTTCTGG	ENSP00000441000.2:p.His811=
ENST00000672801.1:c.2426_2433delinsACTTCTGG	ENSP00000500615.1:p.His809=
ENST00000676266.1:c.2432_2439delinsACTTCTGG MANE Select	ENSP00000502585.1:p.His811=
ENST00000321897.9:c.2432_2439delinsACTTCTGG	ENSP00000316092.5:p.His811=
ENST00000469358.5:n.2420_2427delinsACTTCTGG
ENST00000473916.1:n.143_150delinsACTTCTGG
ENST00000476162.5:n.1219_1226delinsACTTCTGG
ENST00000477052.1:n.518_525delinsACTTCTGG
ENST00000477288.5:n.5045_5052delinsACTTCTGG
ENST00000541562.5:c.2522_2529delinsACTTCTGG	ENSP00000441000.1:p.His841=
ENST00000542001.5:c.2426_2433delinsACTTCTGG	ENSP00000438200.2:p.His809=
ENST00000625423.2:c.2012_2019delinsACTTCTGG	ENSP00000485818.1:p.His671=
NM_001167733.2:c.2012_2019delinsACTTCTGG	NP_001161205.1:p.His671=
NM_001167734.1:c.2522_2529delinsACTTCTGG	NP_001161206.1:p.His841=
NM_020442.5:c.2432_2439delinsACTTCTGG	NP_065175.4:p.His811=
NM_001167733.3:c.2012_2019delinsACTTCTGG	NP_001161205.1:p.His671=
NM_001167734.2:c.2522_2529delinsACTTCTGG	NP_001161206.1:p.His841=
NM_020442.6:c.2432_2439delinsACTTCTGG MANE Select	NP_065175.4:p.His811=