Canonical Allele Identifier: CA2650528238

Gene: USH2A

Linked Data

• gnomAD v4: 1-215813909-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215813909A>C , CM000663.2:g.215813909A>C	GRCh38
NC_000001.10:g.215987251A>C , CM000663.1:g.215987251A>C	GRCh37
NC_000001.9:g.214053874A>C	NCBI36
NG_009497.1:g.614488T>G
NG_009497.2:g.614540T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9571-5T>G MANE Select	ENSP00000305941.3:n.9571-5T>G
ENST00000674083.1:c.9571-5T>G	ENSP00000501296.1:n.9571-5T>G
ENST00000307340.7:c.9571-5T>G	ENSP00000305941.3:n.9571-5T>G
NM_206933.2:c.9571-5T>G	NP_996816.2:n.9571-5T>G
NM_206933.3:c.9571-5T>G	NP_996816.2:n.9571-5T>G
NM_206933.4:c.9571-5T>G MANE Select	NP_996816.3:n.9571-5T>G