Canonical Allele Identifier: CA731379459

Gene: USH2A

Linked Data

• dbSNP Id: rs1481858388
• gnomAD v3: 1-216418704-G-GA
• gnomAD v4: 1-216418704-G-GA
• MyVariant Identifiers: chr1:g.216592046_216592047insA (hg19) ; chr1:g.216418704_216418705insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216418708dup , CM000663.2:g.216418708dup	GRCh38
NC_000001.10:g.216592050dup , CM000663.1:g.216592050dup	GRCh37
NC_000001.9:g.214658673dup	NCBI36
NG_009497.1:g.9692dup
NG_009497.2:g.9744dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.486-26dup MANE Select	ENSP00000305941.3:n.486-26dup
ENST00000674083.1:c.486-26dup	ENSP00000501296.1:n.486-26dup
ENST00000307340.7:c.486-26dup	ENSP00000305941.3:n.486-26dup
ENST00000366942.3:c.486-26dup	ENSP00000355909.3:n.486-26dup
NM_007123.5:c.486-26dup	NP_009054.5:n.486-26dup
NM_206933.2:c.486-26dup	NP_996816.2:n.486-26dup
NM_206933.3:c.486-26dup	NP_996816.2:n.486-26dup
NM_007123.6:c.486-26dup	NP_009054.6:n.486-26dup
NM_206933.4:c.486-26dup MANE Select	NP_996816.3:n.486-26dup