Canonical Allele Identifier: CA10606599
Gene: GRHL2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 289923
ClinVar RCV Id: RCV000358123
dbSNP Id: rs886044309

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.101599152G>A , CM000670.2:g.101599152G>A GRCh38
NC_000008.10:g.102611380G>A , CM000670.1:g.102611380G>A GRCh37
NC_000008.9:g.102680556G>A NCBI36
NG_011971.1:g.111713G>A
NG_011971.2:g.111713G>A

Transcript Alleles

HGVS Amino-acid change
NM_024915.3:c.1098+1G>A VV NP_079191.2:p.=
XM_011517305.1:c.1050+1G>A XP_011515607.1:p.=
XM_011517306.1:c.1050+1G>A XP_011515608.1:p.=
XM_011517307.1:c.1098+1G>A XP_011515609.1:p.=
NM_001330593.1:c.1050+1G>A VV NP_001317522.1:p.=
XM_011517306.3:c.1050+1G>A XP_011515608.1:p.=
XM_011517307.3:c.1098+1G>A XP_011515609.1:p.=
ENST00000251808.7:c.1098+1G>A ENSP00000251808.3:p.=
ENST00000395927.1:c.1050+1G>A ENSP00000379260.1:p.=