Canonical Allele Identifier: CA371643386

Gene: GRHL2

Linked Data

• MyVariant Identifiers: chr8:g.102555633C>T (hg19) ; chr8:g.101543405C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101543405C>T , CM000670.2:g.101543405C>T	GRCh38
NC_000008.10:g.102555633C>T , CM000670.1:g.102555633C>T	GRCh37
NC_000008.9:g.102624809C>T	NCBI36
NG_011971.1:g.55966C>T
NG_011971.2:g.55966C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.185C>T MANE Select	ENSP00000495564.1:p.Ala62Val
ENST00000251808.7:c.185C>T	ENSP00000251808.3:p.Ala62Val
ENST00000395927.1:c.137C>T	ENSP00000379260.1:p.Ala46Val
ENST00000472106.2:n.513C>T
NM_024915.3:c.185C>T	NP_079191.2:p.Ala62Val
XM_011517305.1:c.137C>T	XP_011515607.1:p.Ala46Val
XM_011517306.1:c.137C>T	XP_011515608.1:p.Ala46Val
XM_011517307.1:c.185C>T	XP_011515609.1:p.Ala62Val
NM_001330593.1:c.137C>T	NP_001317522.1:p.Ala46Val
XM_011517306.3:c.137C>T	XP_011515608.1:p.Ala46Val
XM_011517307.3:c.185C>T	XP_011515609.1:p.Ala62Val
NM_001330593.2:c.137C>T	NP_001317522.1:p.Ala46Val
NM_024915.4:c.185C>T MANE Select	NP_079191.2:p.Ala62Val