Canonical Allele Identifier: CA137891

Gene: GRHL2

Linked Data

• ClinVar Variation Id: 46216
• ClinVar RCV Id: RCV000039460 ; RCV001527340 ; RCV002477111 ; RCV002513546
• dbSNP Id: rs370196002
• ExAC: 8:102676706 G / A
• gnomAD v2: 8-102676706-G-A
• gnomAD v3: 8-101664478-G-A
• gnomAD v4: 8-101664478-G-A
• MyVariant Identifiers: chr8:g.102676706G>A (hg19) ; chr8:g.101664478G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101664478G>A , CM000670.2:g.101664478G>A	GRCh38
NC_000008.10:g.102676706G>A , CM000670.1:g.102676706G>A	GRCh37
NC_000008.9:g.102745882G>A	NCBI36
NG_011971.1:g.177039G>A
NG_011971.2:g.177039G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000646743.1:c.1723G>A MANE Select	ENSP00000495564.1:p.Val575Met
ENST00000251808.7:c.1723G>A	ENSP00000251808.3:p.Val575Met
ENST00000395927.1:c.1675G>A	ENSP00000379260.1:p.Val559Met
ENST00000474338.1:n.365G>A
ENST00000517674.5:n.292G>A
NM_024915.3:c.1723G>A	NP_079191.2:p.Val575Met
XM_011517305.1:c.1675G>A	XP_011515607.1:p.Val559Met
XM_011517306.1:c.1675G>A	XP_011515608.1:p.Val559Met
XM_011517307.1:c.1723G>A	XP_011515609.1:p.Val575Met
NM_001330593.1:c.1675G>A	NP_001317522.1:p.Val559Met
XM_011517306.3:c.1675G>A	XP_011515608.1:p.Val559Met
XM_011517307.3:c.1723G>A	XP_011515609.1:p.Val575Met
NM_001330593.2:c.1675G>A	NP_001317522.1:p.Val559Met
NM_024915.4:c.1723G>A MANE Select	NP_079191.2:p.Val575Met