Canonical Allele Identifier: CA182215
Gene: GRHL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 178378
ClinVar RCV Id: RCV000155125 RCV001568154 RCV002484936
dbSNP Id: rs142411476
ExAC: 8:102570910 G / A
gnomAD v2: 8-102570910-G-A
gnomAD v3: 8-101558682-G-A
gnomAD v4: 8-101558682-G-A
MyVariant Identifiers: chr8:g.102570910G>A (hg19) chr8:g.101558682G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.101558682G>A , CM000670.2:g.101558682G>A GRCh38
NC_000008.10:g.102570910G>A , CM000670.1:g.102570910G>A GRCh37
NC_000008.9:g.102640086G>A NCBI36
NG_011971.1:g.71243G>A
NG_011971.2:g.71243G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646743.1:c.548G>A MANE Select ENSP00000495564.1:p.Arg183Gln
ENST00000251808.7:c.548G>A ENSP00000251808.3:p.Arg183Gln
ENST00000395927.1:c.500G>A ENSP00000379260.1:p.Arg167Gln
NM_024915.3:c.548G>A NP_079191.2:p.Arg183Gln
XM_011517305.1:c.500G>A XP_011515607.1:p.Arg167Gln
XM_011517306.1:c.500G>A XP_011515608.1:p.Arg167Gln
XM_011517307.1:c.548G>A XP_011515609.1:p.Arg183Gln
NM_001330593.1:c.500G>A NP_001317522.1:p.Arg167Gln
XM_011517306.3:c.500G>A XP_011515608.1:p.Arg167Gln
XM_011517307.3:c.548G>A XP_011515609.1:p.Arg183Gln
NM_001330593.2:c.500G>A NP_001317522.1:p.Arg167Gln
NM_024915.4:c.548G>A MANE Select NP_079191.2:p.Arg183Gln
Search 100 bp 5'
Search 100 bp 3'