Canonical Allele Identifier: CA1220619324

Gene: USH2A

Linked Data

• dbSNP Id: rs2036070791

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247241del , CM000663.2:g.216247241del	GRCh38
NC_000001.10:g.216420583del , CM000663.1:g.216420583del	GRCh37
NC_000001.9:g.214487206del	NCBI36
NG_009497.1:g.181156del
NG_009497.2:g.181208del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2168-15del MANE Select	ENSP00000305941.3:n.2168-15del
ENST00000674083.1:c.2168-15del	ENSP00000501296.1:n.2168-15del
ENST00000307340.7:c.2168-15del	ENSP00000305941.3:n.2168-15del
ENST00000366942.3:c.2168-15del	ENSP00000355909.3:n.2168-15del
NM_007123.5:c.2168-15del	NP_009054.5:n.2168-15del
NM_206933.2:c.2168-15del	NP_996816.2:n.2168-15del
NM_206933.3:c.2168-15del	NP_996816.2:n.2168-15del
NM_007123.6:c.2168-15del	NP_009054.6:n.2168-15del
NM_206933.4:c.2168-15del MANE Select	NP_996816.3:n.2168-15del