Canonical Allele Identifier: CA10640501
Gene: OTOP2 HGNC NCBI
USH1G HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.74923246C>G
GRCh37 chr17:g.72919341C>G
gnomAD v2:
17:72919341 C / G
gnomAD v3:
17:74923246 C / G
gnomAD v4:
chr17-74923246-C-G
Joint Max Group AF 0.00675673 (NFE)
Genomes Max Group AF 0.00702159 (NFE)
Exomes Max Group AF 0.00635853 (NFE)
ClinVar RCV:
RCV000367489
ClinVar Variation:
325060
dbSNP:
570755897
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74923246C>G , CM000679.2:g.74923246C>G GRCh38
NC_000017.10:g.72919341C>G , CM000679.1:g.72919341C>G GRCh37
NC_000017.9:g.70430936C>G NCBI36
NG_007882.1:g.5011G>C
NG_033062.1:g.3972C>G
NG_007882.2:g.5018G>C
NG_033062.2:g.3972C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000580223.2:c.-231+212C>G (OTOP2) ENSP00000463837.2:n.-231+212C>G
ENST00000614341.5:c.-173G>C (USH1G) MANE Select ENSP00000480279.1:n.-173G>C
ENST00000579243.1:c.-173G>C (USH1G) ENSP00000462568.1:n.-173G>C
ENST00000614341.4:c.-173G>C (USH1G) ENSP00000480279.1:n.-173G>C
NM_001282489.2:c.-429G>C (USH1G) NP_001269418.1:n.-429G>C
NM_173477.4:c.-173G>C (USH1G) NP_775748.2:n.-173G>C
XM_011525479.1:c.-231+212C>G (OTOP2) XP_011523781.1:n.-231+212C>G
XM_011525479.2:c.-231+212C>G (OTOP2) XP_011523781.1:n.-231+212C>G
NM_173477.5:c.-173G>C (USH1G) MANE Select NP_775748.2:n.-173G>C
NM_001282489.3:c.-429G>C (USH1G) NP_001269418.1:n.-429G>C
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