Canonical Allele Identifier: CA182437002

Gene: GRHL2

Linked Data

• dbSNP Id: rs781306443
• gnomAD v3: 8-101644485-C-CA
• gnomAD v4: 8-101644485-C-CA
• MyVariant Identifiers: chr8:g.102656713_102656714insA (hg19) ; chr8:g.101644485_101644486insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101644487dup , CM000670.2:g.101644487dup	GRCh38
NC_000008.10:g.102656715dup , CM000670.1:g.102656715dup	GRCh37
NC_000008.9:g.102725891dup	NCBI36
NG_011971.1:g.157048dup
NG_011971.2:g.157048dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.1612+262dup MANE Select	ENSP00000495564.1:n.1612+262dup
ENST00000251808.7:c.1612+262dup	ENSP00000251808.3:n.1612+262dup
ENST00000395927.1:c.1564+262dup	ENSP00000379260.1:n.1564+262dup
ENST00000474338.1:n.254+262dup
ENST00000517674.5:n.267+262dup
NM_024915.3:c.1612+262dup	NP_079191.2:n.1612+262dup
XM_011517305.1:c.1564+262dup	XP_011515607.1:n.1564+262dup
XM_011517306.1:c.1564+262dup	XP_011515608.1:n.1564+262dup
XM_011517307.1:c.1612+262dup	XP_011515609.1:n.1612+262dup
NM_001330593.1:c.1564+262dup	NP_001317522.1:n.1564+262dup
XM_011517306.3:c.1564+262dup	XP_011515608.1:n.1564+262dup
XM_011517307.3:c.1612+262dup	XP_011515609.1:n.1612+262dup
NM_001330593.2:c.1564+262dup	NP_001317522.1:n.1564+262dup
NM_024915.4:c.1612+262dup MANE Select	NP_079191.2:n.1612+262dup