Canonical Allele Identifier: CA170787
Gene: GRHL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 156216
ClinVar RCV Id: RCV000144237 RCV001281606
dbSNP Id: rs587777737
MyVariant Identifiers: chr8:g.102631860T>C (hg19) chr8:g.101619632T>C (hg38)
PubMed: PMID:25152456
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.101619632T>C , CM000670.2:g.101619632T>C GRCh38
NC_000008.10:g.102631860T>C , CM000670.1:g.102631860T>C GRCh37
NC_000008.9:g.102701036T>C NCBI36
NG_011971.1:g.132193T>C
NG_011971.2:g.132193T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000646743.1:c.1192T>C MANE Select ENSP00000495564.1:p.Tyr398His
ENST00000251808.7:c.1192T>C ENSP00000251808.3:p.Tyr398His
ENST00000395927.1:c.1144T>C ENSP00000379260.1:p.Tyr382His
NM_024915.3:c.1192T>C NP_079191.2:p.Tyr398His
XM_011517305.1:c.1144T>C XP_011515607.1:p.Tyr382His
XM_011517306.1:c.1144T>C XP_011515608.1:p.Tyr382His
XM_011517307.1:c.1192T>C XP_011515609.1:p.Tyr398His
NM_001330593.1:c.1144T>C NP_001317522.1:p.Tyr382His
XM_011517306.3:c.1144T>C XP_011515608.1:p.Tyr382His
XM_011517307.3:c.1192T>C XP_011515609.1:p.Tyr398His
NM_001330593.2:c.1144T>C NP_001317522.1:p.Tyr382His
NM_024915.4:c.1192T>C MANE Select NP_079191.2:p.Tyr398His
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