Canonical Allele Identifier: CA1396256

Gene: USH2A

Linked Data

• dbSNP Id: rs769290986
• ExAC: 1:216420466 T / A
• gnomAD v2: 1-216420466-T-A
• gnomAD v4: 1-216247124-T-A
• MyVariant Identifiers: chr1:g.216420466T>A (hg19) ; chr1:g.216247124T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247124T>A , CM000663.2:g.216247124T>A	GRCh38
NC_000001.10:g.216420466T>A , CM000663.1:g.216420466T>A	GRCh37
NC_000001.9:g.214487089T>A	NCBI36
NG_009497.1:g.181273A>T
NG_009497.2:g.181325A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2270A>T MANE Select	ENSP00000305941.3:p.Lys757Ile
ENST00000674083.1:c.2270A>T	ENSP00000501296.1:p.Lys757Ile
ENST00000307340.7:c.2270A>T	ENSP00000305941.3:p.Lys757Ile
ENST00000366942.3:c.2270A>T	ENSP00000355909.3:p.Lys757Ile
NM_007123.5:c.2270A>T	NP_009054.5:p.Lys757Ile
NM_206933.2:c.2270A>T	NP_996816.2:p.Lys757Ile
NM_206933.3:c.2270A>T	NP_996816.2:p.Lys757Ile
NM_007123.6:c.2270A>T	NP_009054.6:p.Lys757Ile
NM_206933.4:c.2270A>T MANE Select	NP_996816.3:p.Lys757Ile