Canonical Allele Identifier: CA528711584

Gene: USH2A

Linked Data

• dbSNP Id: rs1385558354
• gnomAD v2: 1-215955351-C-G
• gnomAD v3: 1-215782009-C-G
• gnomAD v4: 1-215782009-C-G
• MyVariant Identifiers: chr1:g.215955351C>G (hg19) ; chr1:g.215782009C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782009C>G , CM000663.2:g.215782009C>G	GRCh38
NC_000001.10:g.215955351C>G , CM000663.1:g.215955351C>G	GRCh37
NC_000001.9:g.214021974C>G	NCBI36
NG_009497.1:g.646388G>C
NG_009497.2:g.646440G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.10740+33G>C MANE Select	ENSP00000305941.3:n.10740+33G>C
ENST00000674083.1:c.10740+33G>C	ENSP00000501296.1:n.10740+33G>C
ENST00000307340.7:c.10740+33G>C	ENSP00000305941.3:n.10740+33G>C
NM_206933.2:c.10740+33G>C	NP_996816.2:n.10740+33G>C
NM_206933.3:c.10740+33G>C	NP_996816.2:n.10740+33G>C
NM_206933.4:c.10740+33G>C MANE Select	NP_996816.3:n.10740+33G>C