Canonical Allele Identifier: CA1393959
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs755532737
ExAC: 1:215955441 C / G
gnomAD v2: 1-215955441-C-G
gnomAD v4: 1-215782099-C-G
MyVariant Identifiers: chr1:g.215955441C>G (hg19) chr1:g.215782099C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215782099C>G , CM000663.2:g.215782099C>G GRCh38
NC_000001.10:g.215955441C>G , CM000663.1:g.215955441C>G GRCh37
NC_000001.9:g.214022064C>G NCBI36
NG_009497.1:g.646298G>C
NG_009497.2:g.646350G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.10683G>C MANE Select ENSP00000305941.3:p.Gln3561His
ENST00000674083.1:c.10683G>C ENSP00000501296.1:p.Gln3561His
ENST00000307340.7:c.10683G>C ENSP00000305941.3:p.Gln3561His
NM_206933.2:c.10683G>C NP_996816.2:p.Gln3561His
NM_206933.3:c.10683G>C NP_996816.2:p.Gln3561His
NM_206933.4:c.10683G>C MANE Select NP_996816.3:p.Gln3561His
Search 100 bp 5'
Search 100 bp 3'