Canonical Allele Identifier: CA1393684

Gene: USH2A

Linked Data

• dbSNP Id: rs769401045
• ExAC: 1:215916491 C / G
• gnomAD v2: 1-215916491-C-G
• gnomAD v3: 1-215743149-C-G
• gnomAD v4: 1-215743149-C-G
• MyVariant Identifiers: chr1:g.215916491C>G (hg19) ; chr1:g.215743149C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215743149C>G , CM000663.2:g.215743149C>G	GRCh38
NC_000001.10:g.215916491C>G , CM000663.1:g.215916491C>G	GRCh37
NC_000001.9:g.213983114C>G	NCBI36
NG_009497.1:g.685248G>C
NG_009497.2:g.685300G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11548+28G>C MANE Select	ENSP00000305941.3:n.11548+28G>C
ENST00000674083.1:c.11548+28G>C	ENSP00000501296.1:n.11548+28G>C
ENST00000307340.7:c.11548+28G>C	ENSP00000305941.3:n.11548+28G>C
NM_206933.2:c.11548+28G>C	NP_996816.2:n.11548+28G>C
NM_206933.3:c.11548+28G>C	NP_996816.2:n.11548+28G>C
NM_206933.4:c.11548+28G>C MANE Select	NP_996816.3:n.11548+28G>C