Canonical Allele Identifier: CA182748622

Gene: GRHL2

Linked Data

• ClinVar Variation Id: 505419
• ClinVar RCV Id: RCV000610408
• dbSNP Id: rs1048525846
• gnomAD v2: 8-102570681-T-A
• gnomAD v4: 8-101558453-T-A
• MyVariant Identifiers: chr8:g.102570681T>A (hg19) ; chr8:g.101558453T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101558453T>A , CM000670.2:g.101558453T>A	GRCh38
NC_000008.10:g.102570681T>A , CM000670.1:g.102570681T>A	GRCh37
NC_000008.9:g.102639857T>A	NCBI36
NG_011971.1:g.71014T>A
NG_011971.2:g.71014T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.319T>A MANE Select	ENSP00000495564.1:p.Leu107Met
ENST00000251808.7:c.319T>A	ENSP00000251808.3:p.Leu107Met
ENST00000395927.1:c.271T>A	ENSP00000379260.1:p.Leu91Met
NM_024915.3:c.319T>A	NP_079191.2:p.Leu107Met
XM_011517305.1:c.271T>A	XP_011515607.1:p.Leu91Met
XM_011517306.1:c.271T>A	XP_011515608.1:p.Leu91Met
XM_011517307.1:c.319T>A	XP_011515609.1:p.Leu107Met
NM_001330593.1:c.271T>A	NP_001317522.1:p.Leu91Met
XM_011517306.3:c.271T>A	XP_011515608.1:p.Leu91Met
XM_011517307.3:c.319T>A	XP_011515609.1:p.Leu107Met
NM_001330593.2:c.271T>A	NP_001317522.1:p.Leu91Met
NM_024915.4:c.319T>A MANE Select	NP_079191.2:p.Leu107Met