Canonical Allele Identifier: CA170788

Gene: GRHL2

Linked Data

• ClinVar Variation Id: 156217
• ClinVar RCV Id: RCV000144238
• dbSNP Id: rs587777738
• MyVariant Identifiers: chr8:g.102644553T>A (hg19) ; chr8:g.101632325T>A (hg38)
• PubMed: PMID:25152456

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101632325T>A , CM000670.2:g.101632325T>A	GRCh38
NC_000008.10:g.102644553T>A , CM000670.1:g.102644553T>A	GRCh37
NC_000008.9:g.102713729T>A	NCBI36
NG_011971.1:g.144886T>A
NG_011971.2:g.144886T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000646743.1:c.1445T>A MANE Select	ENSP00000495564.1:p.Ile482Lys
ENST00000251808.7:c.1445T>A	ENSP00000251808.3:p.Ile482Lys
ENST00000395927.1:c.1397T>A	ENSP00000379260.1:p.Ile466Lys
ENST00000517674.5:n.100T>A
NM_024915.3:c.1445T>A	NP_079191.2:p.Ile482Lys
XM_011517305.1:c.1397T>A	XP_011515607.1:p.Ile466Lys
XM_011517306.1:c.1397T>A	XP_011515608.1:p.Ile466Lys
XM_011517307.1:c.1445T>A	XP_011515609.1:p.Ile482Lys
NM_001330593.1:c.1397T>A	NP_001317522.1:p.Ile466Lys
XM_011517306.3:c.1397T>A	XP_011515608.1:p.Ile466Lys
XM_011517307.3:c.1445T>A	XP_011515609.1:p.Ile482Lys
NM_001330593.2:c.1397T>A	NP_001317522.1:p.Ile466Lys
NM_024915.4:c.1445T>A MANE Select	NP_079191.2:p.Ile482Lys