Canonical Allele Identifier: CA182753091

Gene: GRHL2

Linked Data

• dbSNP Id: rs879023087
• gnomAD v4: 8-101599251-A-G
• MyVariant Identifiers: chr8:g.102611479A>G (hg19) ; chr8:g.101599251A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101599251A>G , CM000670.2:g.101599251A>G	GRCh38
NC_000008.10:g.102611479A>G , CM000670.1:g.102611479A>G	GRCh37
NC_000008.9:g.102680655A>G	NCBI36
NG_011971.1:g.111812A>G
NG_011971.2:g.111812A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.1098+100A>G MANE Select	ENSP00000495564.1:n.1098+100A>G
ENST00000251808.7:c.1098+100A>G	ENSP00000251808.3:n.1098+100A>G
ENST00000395927.1:c.1050+100A>G	ENSP00000379260.1:n.1050+100A>G
NM_024915.3:c.1098+100A>G	NP_079191.2:n.1098+100A>G
XM_011517305.1:c.1050+100A>G	XP_011515607.1:n.1050+100A>G
XM_011517306.1:c.1050+100A>G	XP_011515608.1:n.1050+100A>G
XM_011517307.1:c.1098+100A>G	XP_011515609.1:n.1098+100A>G
NM_001330593.1:c.1050+100A>G	NP_001317522.1:n.1050+100A>G
XM_011517306.3:c.1050+100A>G	XP_011515608.1:n.1050+100A>G
XM_011517307.3:c.1098+100A>G	XP_011515609.1:n.1098+100A>G
NM_001330593.2:c.1050+100A>G	NP_001317522.1:n.1050+100A>G
NM_024915.4:c.1098+100A>G MANE Select	NP_079191.2:n.1098+100A>G