Canonical Allele Identifier: CA179521

Gene: USH2A

Linked Data

• ClinVar Variation Id: 166450
• ClinVar RCV Id: RCV000152581 ; RCV001397657 ; RCV003445574 ; RCV003445575
• dbSNP Id: rs201206110
• ExAC: 1:215955377 C / G
• gnomAD v2: 1-215955377-C-G
• gnomAD v3: 1-215782035-C-G
• gnomAD v4: 1-215782035-C-G
• MyVariant Identifiers: chr1:g.215955377C>G (hg19) ; chr1:g.215782035C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782035C>G , CM000663.2:g.215782035C>G	GRCh38
NC_000001.10:g.215955377C>G , CM000663.1:g.215955377C>G	GRCh37
NC_000001.9:g.214022000C>G	NCBI36
NG_009497.1:g.646362G>C
NG_009497.2:g.646414G>C

Transcript Alleles

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