Canonical Allele Identifier: CA371589430
Gene: GRHL2 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.101632325T>C
GRCh37 chr8:g.102644553T>C
Revel Score:
ENST00000251808 0.397
ENST00000395927 0.397
ENST00000395928 0.397
gnomAD v2:
8:102644553 T / C
gnomAD v3:
8:101632325 T / C
gnomAD v4:
chr8-101632325-T-C
Joint Max Group AF 0.00002234 (NFE)
Exomes Max Group AF 0.00002285 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.101632325T>C , CM000670.2:g.101632325T>C GRCh38
NC_000008.10:g.102644553T>C , CM000670.1:g.102644553T>C GRCh37
NC_000008.9:g.102713729T>C NCBI36
NG_011971.1:g.144886T>C
NG_011971.2:g.144886T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000646743.1:c.1445T>C MANE Select ENSP00000495564.1:p.Ile482Thr
ENST00000251808.7:c.1445T>C ENSP00000251808.3:p.Ile482Thr
ENST00000395927.1:c.1397T>C ENSP00000379260.1:p.Ile466Thr
ENST00000517674.5:n.100T>C
NM_024915.3:c.1445T>C NP_079191.2:p.Ile482Thr
XM_011517305.1:c.1397T>C XP_011515607.1:p.Ile466Thr
XM_011517306.1:c.1397T>C XP_011515608.1:p.Ile466Thr
XM_011517307.1:c.1445T>C XP_011515609.1:p.Ile482Thr
NM_001330593.1:c.1397T>C NP_001317522.1:p.Ile466Thr
XM_011517306.3:c.1397T>C XP_011515608.1:p.Ile466Thr
XM_011517307.3:c.1445T>C XP_011515609.1:p.Ile482Thr
NM_001330593.2:c.1397T>C NP_001317522.1:p.Ile466Thr
NM_024915.4:c.1445T>C MANE Select NP_079191.2:p.Ile482Thr
Search 100 bp 5'
Search 100 bp 3'