Canonical Allele Identifier: CA462127892

Gene: GRHL2

Linked Data

• gnomAD v4: 8-101644131-T-C
• MyVariant Identifiers: chr8:g.102656359T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101644131T>C , CM000670.2:g.101644131T>C	GRCh38
NC_000008.10:g.102656359T>C , CM000670.1:g.102656359T>C	GRCh37
NC_000008.9:g.102725535T>C	NCBI36
NG_011971.1:g.156692T>C
NG_011971.2:g.156692T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000646743.1:c.1518T>C MANE Select	ENSP00000495564.1:p.Gly506=
ENST00000251808.7:c.1518T>C	ENSP00000251808.3:p.Gly506=
ENST00000395927.1:c.1470T>C	ENSP00000379260.1:p.Gly490=
ENST00000474338.1:n.160T>C
ENST00000517674.5:n.173T>C
NM_024915.3:c.1518T>C	NP_079191.2:p.Gly506=
XM_011517305.1:c.1470T>C	XP_011515607.1:p.Gly490=
XM_011517306.1:c.1470T>C	XP_011515608.1:p.Gly490=
XM_011517307.1:c.1518T>C	XP_011515609.1:p.Gly506=
NM_001330593.1:c.1470T>C	NP_001317522.1:p.Gly490=
XM_011517306.3:c.1470T>C	XP_011515608.1:p.Gly490=
XM_011517307.3:c.1518T>C	XP_011515609.1:p.Gly506=
NM_001330593.2:c.1470T>C	NP_001317522.1:p.Gly490=
NM_024915.4:c.1518T>C MANE Select	NP_079191.2:p.Gly506=