Canonical Allele Identifier: CA371592011

Gene: GRHL2

Linked Data

• MyVariant Identifiers: chr8:g.102656430T>G (hg19) ; chr8:g.101644202T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101644202T>G , CM000670.2:g.101644202T>G	GRCh38
NC_000008.10:g.102656430T>G , CM000670.1:g.102656430T>G	GRCh37
NC_000008.9:g.102725606T>G	NCBI36
NG_011971.1:g.156763T>G
NG_011971.2:g.156763T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.1589T>G MANE Select	ENSP00000495564.1:p.Met530Arg
ENST00000251808.7:c.1589T>G	ENSP00000251808.3:p.Met530Arg
ENST00000395927.1:c.1541T>G	ENSP00000379260.1:p.Met514Arg
ENST00000474338.1:n.231T>G
ENST00000517674.5:n.244T>G
NM_024915.3:c.1589T>G	NP_079191.2:p.Met530Arg
XM_011517305.1:c.1541T>G	XP_011515607.1:p.Met514Arg
XM_011517306.1:c.1541T>G	XP_011515608.1:p.Met514Arg
XM_011517307.1:c.1589T>G	XP_011515609.1:p.Met530Arg
NM_001330593.1:c.1541T>G	NP_001317522.1:p.Met514Arg
XM_011517306.3:c.1541T>G	XP_011515608.1:p.Met514Arg
XM_011517307.3:c.1589T>G	XP_011515609.1:p.Met530Arg
NM_001330593.2:c.1541T>G	NP_001317522.1:p.Met514Arg
NM_024915.4:c.1589T>G MANE Select	NP_079191.2:p.Met530Arg