Canonical Allele Identifier: CA462234323

Gene: GRHL2

Linked Data

• gnomAD v4: 8-101543430-C-T
• MyVariant Identifiers: chr8:g.102555658C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101543430C>T , CM000670.2:g.101543430C>T	GRCh38
NC_000008.10:g.102555658C>T , CM000670.1:g.102555658C>T	GRCh37
NC_000008.9:g.102624834C>T	NCBI36
NG_011971.1:g.55991C>T
NG_011971.2:g.55991C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.210C>T MANE Select	ENSP00000495564.1:p.Tyr70=
ENST00000251808.7:c.210C>T	ENSP00000251808.3:p.Tyr70=
ENST00000395927.1:c.162C>T	ENSP00000379260.1:p.Tyr54=
ENST00000472106.2:n.538C>T
NM_024915.3:c.210C>T	NP_079191.2:p.Tyr70=
XM_011517305.1:c.162C>T	XP_011515607.1:p.Tyr54=
XM_011517306.1:c.162C>T	XP_011515608.1:p.Tyr54=
XM_011517307.1:c.210C>T	XP_011515609.1:p.Tyr70=
NM_001330593.1:c.162C>T	NP_001317522.1:p.Tyr54=
XM_011517306.3:c.162C>T	XP_011515608.1:p.Tyr54=
XM_011517307.3:c.210C>T	XP_011515609.1:p.Tyr70=
NM_001330593.2:c.162C>T	NP_001317522.1:p.Tyr54=
NM_024915.4:c.210C>T MANE Select	NP_079191.2:p.Tyr70=