Canonical Allele Identifier: CA2607178753

Gene: USH2A

Linked Data

• dbSNP Id: rs2102654432
• gnomAD v3: 1-216324362-G-GA
• gnomAD v4: 1-216324362-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216324365dup , CM000663.2:g.216324365dup	GRCh38
NC_000001.10:g.216497707dup , CM000663.1:g.216497707dup	GRCh37
NC_000001.9:g.214564330dup	NCBI36
NG_009497.1:g.104034dup
NG_009497.2:g.104086dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.1144-11dup MANE Select	ENSP00000305941.3:n.1144-11dup
ENST00000674083.1:c.1144-11dup	ENSP00000501296.1:n.1144-11dup
ENST00000307340.7:c.1144-11dup	ENSP00000305941.3:n.1144-11dup
ENST00000366942.3:c.1144-11dup	ENSP00000355909.3:n.1144-11dup
NM_007123.5:c.1144-11dup	NP_009054.5:n.1144-11dup
NM_206933.2:c.1144-11dup	NP_996816.2:n.1144-11dup
NM_206933.3:c.1144-11dup	NP_996816.2:n.1144-11dup
NM_007123.6:c.1144-11dup	NP_009054.6:n.1144-11dup
NM_206933.4:c.1144-11dup MANE Select	NP_996816.3:n.1144-11dup