Canonical Allele Identifier: CA4830614

Gene: GRHL2

Linked Data

• dbSNP Id: rs757766997
• ExAC: 8:102656364 G / A
• gnomAD v2: 8-102656364-G-A
• gnomAD v3: 8-101644136-G-A
• gnomAD v4: 8-101644136-G-A
• MyVariant Identifiers: chr8:g.102656364G>A (hg19) ; chr8:g.101644136G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101644136G>A , CM000670.2:g.101644136G>A	GRCh38
NC_000008.10:g.102656364G>A , CM000670.1:g.102656364G>A	GRCh37
NC_000008.9:g.102725540G>A	NCBI36
NG_011971.1:g.156697G>A
NG_011971.2:g.156697G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.1523G>A MANE Select	ENSP00000495564.1:p.Ser508Asn
ENST00000251808.7:c.1523G>A	ENSP00000251808.3:p.Ser508Asn
ENST00000395927.1:c.1475G>A	ENSP00000379260.1:p.Ser492Asn
ENST00000474338.1:n.165G>A
ENST00000517674.5:n.178G>A
NM_024915.3:c.1523G>A	NP_079191.2:p.Ser508Asn
XM_011517305.1:c.1475G>A	XP_011515607.1:p.Ser492Asn
XM_011517306.1:c.1475G>A	XP_011515608.1:p.Ser492Asn
XM_011517307.1:c.1523G>A	XP_011515609.1:p.Ser508Asn
NM_001330593.1:c.1475G>A	NP_001317522.1:p.Ser492Asn
XM_011517306.3:c.1475G>A	XP_011515608.1:p.Ser492Asn
XM_011517307.3:c.1523G>A	XP_011515609.1:p.Ser508Asn
NM_001330593.2:c.1475G>A	NP_001317522.1:p.Ser492Asn
NM_024915.4:c.1523G>A MANE Select	NP_079191.2:p.Ser508Asn