Canonical Allele Identifier: CA4830481

Gene: GRHL2

Linked Data

• dbSNP Id: rs370997183
• ExAC: 8:102611399 T / C
• gnomAD v2: 8-102611399-T-C
• gnomAD v3: 8-101599171-T-C
• gnomAD v4: 8-101599171-T-C
• MyVariant Identifiers: chr8:g.102611399T>C (hg19) ; chr8:g.101599171T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101599171T>C , CM000670.2:g.101599171T>C	GRCh38
NC_000008.10:g.102611399T>C , CM000670.1:g.102611399T>C	GRCh37
NC_000008.9:g.102680575T>C	NCBI36
NG_011971.1:g.111732T>C
NG_011971.2:g.111732T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000646743.1:c.1098+20T>C MANE Select	ENSP00000495564.1:n.1098+20T>C
ENST00000251808.7:c.1098+20T>C	ENSP00000251808.3:n.1098+20T>C
ENST00000395927.1:c.1050+20T>C	ENSP00000379260.1:n.1050+20T>C
NM_024915.3:c.1098+20T>C	NP_079191.2:n.1098+20T>C
XM_011517305.1:c.1050+20T>C	XP_011515607.1:n.1050+20T>C
XM_011517306.1:c.1050+20T>C	XP_011515608.1:n.1050+20T>C
XM_011517307.1:c.1098+20T>C	XP_011515609.1:n.1098+20T>C
NM_001330593.1:c.1050+20T>C	NP_001317522.1:n.1050+20T>C
XM_011517306.3:c.1050+20T>C	XP_011515608.1:n.1050+20T>C
XM_011517307.3:c.1098+20T>C	XP_011515609.1:n.1098+20T>C
NM_001330593.2:c.1050+20T>C	NP_001317522.1:n.1050+20T>C
NM_024915.4:c.1098+20T>C MANE Select	NP_079191.2:n.1098+20T>C