Canonical Allele Identifier: CA371643040

Gene: GRHL2

Linked Data

• dbSNP Id: rs1190914843
• gnomAD v2: 8-102555479-C-G
• gnomAD v4: 8-101543251-C-G
• MyVariant Identifiers: chr8:g.102555479C>G (hg19) ; chr8:g.101543251C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101543251C>G , CM000670.2:g.101543251C>G	GRCh38
NC_000008.10:g.102555479C>G , CM000670.1:g.102555479C>G	GRCh37
NC_000008.9:g.102624655C>G	NCBI36
NG_011971.1:g.55812C>G
NG_011971.2:g.55812C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.31C>G MANE Select	ENSP00000495564.1:p.Leu11Val
ENST00000251808.7:c.31C>G	ENSP00000251808.3:p.Leu11Val
ENST00000395927.1:c.-18C>G	ENSP00000379260.1:n.-18C>G
ENST00000472106.2:n.359C>G
NM_024915.3:c.31C>G	NP_079191.2:p.Leu11Val
XM_011517305.1:c.-18C>G	XP_011515607.1:n.-18C>G
XM_011517306.1:c.-18C>G	XP_011515608.1:n.-18C>G
XM_011517307.1:c.31C>G	XP_011515609.1:p.Leu11Val
NM_001330593.1:c.-18C>G	NP_001317522.1:n.-18C>G
XM_011517306.3:c.-18C>G	XP_011515608.1:n.-18C>G
XM_011517307.3:c.31C>G	XP_011515609.1:p.Leu11Val
NM_001330593.2:c.-18C>G	NP_001317522.1:n.-18C>G
NM_024915.4:c.31C>G MANE Select	NP_079191.2:p.Leu11Val