Canonical Allele Identifier: CA2650513334

Gene: USH2A

Linked Data

• gnomAD v4: 1-216418704-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216418704G>C , CM000663.2:g.216418704G>C	GRCh38
NC_000001.10:g.216592046G>C , CM000663.1:g.216592046G>C	GRCh37
NC_000001.9:g.214658669G>C	NCBI36
NG_009497.1:g.9693C>G
NG_009497.2:g.9745C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.486-25C>G MANE Select	ENSP00000305941.3:n.486-25C>G
ENST00000674083.1:c.486-25C>G	ENSP00000501296.1:n.486-25C>G
ENST00000307340.7:c.486-25C>G	ENSP00000305941.3:n.486-25C>G
ENST00000366942.3:c.486-25C>G	ENSP00000355909.3:n.486-25C>G
NM_007123.5:c.486-25C>G	NP_009054.5:n.486-25C>G
NM_206933.2:c.486-25C>G	NP_996816.2:n.486-25C>G
NM_206933.3:c.486-25C>G	NP_996816.2:n.486-25C>G
NM_007123.6:c.486-25C>G	NP_009054.6:n.486-25C>G
NM_206933.4:c.486-25C>G MANE Select	NP_996816.3:n.486-25C>G