Canonical Allele Identifier: CA583891856

Gene: GRHL2

Linked Data

• dbSNP Id: rs1257174638
• gnomAD v2: 8-102656758-G-A
• gnomAD v3: 8-101644530-G-A
• gnomAD v4: 8-101644530-G-A
• MyVariant Identifiers: chr8:g.102656758G>A (hg19) ; chr8:g.101644530G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101644530G>A , CM000670.2:g.101644530G>A	GRCh38
NC_000008.10:g.102656758G>A , CM000670.1:g.102656758G>A	GRCh37
NC_000008.9:g.102725934G>A	NCBI36
NG_011971.1:g.157091G>A
NG_011971.2:g.157091G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.1612+305G>A MANE Select	ENSP00000495564.1:n.1612+305G>A
ENST00000251808.7:c.1612+305G>A	ENSP00000251808.3:n.1612+305G>A
ENST00000395927.1:c.1564+305G>A	ENSP00000379260.1:n.1564+305G>A
ENST00000474338.1:n.254+305G>A
ENST00000517674.5:n.267+305G>A
NM_024915.3:c.1612+305G>A	NP_079191.2:n.1612+305G>A
XM_011517305.1:c.1564+305G>A	XP_011515607.1:n.1564+305G>A
XM_011517306.1:c.1564+305G>A	XP_011515608.1:n.1564+305G>A
XM_011517307.1:c.1612+305G>A	XP_011515609.1:n.1612+305G>A
NM_001330593.1:c.1564+305G>A	NP_001317522.1:n.1564+305G>A
XM_011517306.3:c.1564+305G>A	XP_011515608.1:n.1564+305G>A
XM_011517307.3:c.1612+305G>A	XP_011515609.1:n.1612+305G>A
NM_001330593.2:c.1564+305G>A	NP_001317522.1:n.1564+305G>A
NM_024915.4:c.1612+305G>A MANE Select	NP_079191.2:n.1612+305G>A