Canonical Allele Identifier: CA12734412
Gene: GRHL2 HGNC NCBI
dbSNP:
3735715
gnomAD v2:
8:102679909 G / A
gnomAD v3:
8:101667681 G / A
gnomAD v4:
chr8-101667681-G-A
Joint Max Group AF 0.59519753 (NFE)
Genomes Max Group AF 0.59512667 (NFE)
Exomes Max Group AF 0.52883155 (NFE)
MyVariant.info:
GRCh38 chr8:g.101667681G>A
GRCh37 chr8:g.102679909G>A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.101667681G>A , CM000670.2:g.101667681G>A GRCh38
NC_000008.10:g.102679909G>A , CM000670.1:g.102679909G>A GRCh37
NC_000008.9:g.102749085G>A NCBI36
NG_011971.1:g.180242G>A
NG_011971.2:g.180242G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646743.1:c.*978G>A MANE Select ENSP00000495564.1:n.*978G>A
ENST00000251808.7:c.*978G>A ENSP00000251808.3:n.*978G>A
NM_024915.3:c.*978G>A NP_079191.2:n.*978G>A
XM_011517305.1:c.*978G>A XP_011515607.1:n.*978G>A
XM_011517306.1:c.*978G>A XP_011515608.1:n.*978G>A
XM_011517307.1:c.1763+3163G>A XP_011515609.1:n.1763+3163G>A
NM_001330593.1:c.*978G>A NP_001317522.1:n.*978G>A
XM_011517306.3:c.*978G>A XP_011515608.1:n.*978G>A
XM_011517307.3:c.1763+3163G>A XP_011515609.1:n.1763+3163G>A
NM_001330593.2:c.*978G>A NP_001317522.1:n.*978G>A
NM_024915.4:c.*978G>A MANE Select NP_079191.2:n.*978G>A
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