Canonical Allele Identifier: CA371643430

Gene: GRHL2

Linked Data

• gnomAD v4: 8-101543427-C-G
• MyVariant Identifiers: chr8:g.102555655C>G (hg19) ; chr8:g.101543427C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101543427C>G , CM000670.2:g.101543427C>G	GRCh38
NC_000008.10:g.102555655C>G , CM000670.1:g.102555655C>G	GRCh37
NC_000008.9:g.102624831C>G	NCBI36
NG_011971.1:g.55988C>G
NG_011971.2:g.55988C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.207C>G MANE Select	ENSP00000495564.1:p.Asp69Glu
ENST00000251808.7:c.207C>G	ENSP00000251808.3:p.Asp69Glu
ENST00000395927.1:c.159C>G	ENSP00000379260.1:p.Asp53Glu
ENST00000472106.2:n.535C>G
NM_024915.3:c.207C>G	NP_079191.2:p.Asp69Glu
XM_011517305.1:c.159C>G	XP_011515607.1:p.Asp53Glu
XM_011517306.1:c.159C>G	XP_011515608.1:p.Asp53Glu
XM_011517307.1:c.207C>G	XP_011515609.1:p.Asp69Glu
NM_001330593.1:c.159C>G	NP_001317522.1:p.Asp53Glu
XM_011517306.3:c.159C>G	XP_011515608.1:p.Asp53Glu
XM_011517307.3:c.207C>G	XP_011515609.1:p.Asp69Glu
NM_001330593.2:c.159C>G	NP_001317522.1:p.Asp53Glu
NM_024915.4:c.207C>G MANE Select	NP_079191.2:p.Asp69Glu