Canonical Allele Identifier: CA37479440
Gene: USH2A HGNC NCBI
dbSNP:
755361656
gnomAD v2:
1:216108024 C / G
gnomAD v3:
1:215934682 C / G
gnomAD v4:
chr1-215934682-C-G
Joint Max Group AF 0.00001455 (NFE)
Genomes Max Group AF 0.00001172 (NFE)
Exomes Max Group AF 0.00001296 (NFE)
MyVariant.info:
GRCh38 chr1:g.215934682C>G
GRCh37 chr1:g.216108024C>G
Revel Score:
ENST00000307340 (MANE Select) 0.279
ENST00000366943 0.279
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215934682C>G , CM000663.2:g.215934682C>G GRCh38
NC_000001.10:g.216108024C>G , CM000663.1:g.216108024C>G GRCh37
NC_000001.9:g.214174647C>G NCBI36
NG_009497.1:g.493715G>C
NG_009497.2:g.493767G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.7234G>C MANE Select ENSP00000305941.3:p.Val2412Leu
ENST00000674083.1:c.7234G>C ENSP00000501296.1:p.Val2412Leu
ENST00000307340.7:c.7234G>C ENSP00000305941.3:p.Val2412Leu
NM_206933.2:c.7234G>C NP_996816.2:p.Val2412Leu
NM_206933.3:c.7234G>C NP_996816.2:p.Val2412Leu
NM_206933.4:c.7234G>C MANE Select NP_996816.3:p.Val2412Leu
Search 100 bp 5'
Search 100 bp 3'