Canonical Allele Identifier: CA1396161

Gene: USH2A

Linked Data

• dbSNP Id: rs753646775
• ExAC: 1:216419918 C / T
• gnomAD v2: 1-216419918-C-T
• gnomAD v4: 1-216246576-C-T
• MyVariant Identifiers: chr1:g.216419918C>T (hg19) ; chr1:g.216246576C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216246576C>T , CM000663.2:g.216246576C>T	GRCh38
NC_000001.10:g.216419918C>T , CM000663.1:g.216419918C>T	GRCh37
NC_000001.9:g.214486541C>T	NCBI36
NG_009497.1:g.181821G>A
NG_009497.2:g.181873G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2809+9G>A MANE Select	ENSP00000305941.3:n.2809+9G>A
ENST00000674083.1:c.2809+9G>A	ENSP00000501296.1:n.2809+9G>A
ENST00000307340.7:c.2809+9G>A	ENSP00000305941.3:n.2809+9G>A
ENST00000366942.3:c.2809+9G>A	ENSP00000355909.3:n.2809+9G>A
NM_007123.5:c.2809+9G>A	NP_009054.5:n.2809+9G>A
NM_206933.2:c.2809+9G>A	NP_996816.2:n.2809+9G>A
NM_206933.3:c.2809+9G>A	NP_996816.2:n.2809+9G>A
NM_007123.6:c.2809+9G>A	NP_009054.6:n.2809+9G>A
NM_206933.4:c.2809+9G>A MANE Select	NP_996816.3:n.2809+9G>A