Canonical Allele Identifier: CA371643011

Gene: GRHL2

Linked Data

• ClinVar Variation Id: 1324514
• ClinVar RCV Id: RCV001782234 ; RCV002246501
• dbSNP Id: rs1811191593
• gnomAD v4: 8-101543239-A-G
• MyVariant Identifiers: chr8:g.102555467A>G (hg19) ; chr8:g.101543239A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101543239A>G , CM000670.2:g.101543239A>G	GRCh38
NC_000008.10:g.102555467A>G , CM000670.1:g.102555467A>G	GRCh37
NC_000008.9:g.102624643A>G	NCBI36
NG_011971.1:g.55800A>G
NG_011971.2:g.55800A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.21-2A>G MANE Select	ENSP00000495564.1:n.21-2A>G
ENST00000251808.7:c.21-2A>G	ENSP00000251808.3:n.21-2A>G
ENST00000395927.1:c.-28-2A>G	ENSP00000379260.1:n.-28-2A>G
ENST00000472106.2:n.349-2A>G
NM_024915.3:c.21-2A>G	NP_079191.2:n.21-2A>G
XM_011517305.1:c.-28-2A>G	XP_011515607.1:n.-28-2A>G
XM_011517306.1:c.-28-2A>G	XP_011515608.1:n.-28-2A>G
XM_011517307.1:c.21-2A>G	XP_011515609.1:n.21-2A>G
NM_001330593.1:c.-28-2A>G	NP_001317522.1:n.-28-2A>G
XM_011517306.3:c.-28-2A>G	XP_011515608.1:n.-28-2A>G
XM_011517307.3:c.21-2A>G	XP_011515609.1:n.21-2A>G
NM_001330593.2:c.-28-2A>G	NP_001317522.1:n.-28-2A>G
NM_024915.4:c.21-2A>G MANE Select	NP_079191.2:n.21-2A>G