Canonical Allele Identifier: CA143591

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48580
• ClinVar RCV Id: RCV000041906 ; RCV000724816 ; RCV001271985
• dbSNP Id: rs375499259
• ExAC: 1:216074253 G / A
• gnomAD v2: 1-216074253-G-A
• gnomAD v3: 1-215900911-G-A
• gnomAD v4: 1-215900911-G-A
• MyVariant Identifiers: chr1:g.216074253G>A (hg19) ; chr1:g.215900911G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215900911G>A , CM000663.2:g.215900911G>A	GRCh38
NC_000001.10:g.216074253G>A , CM000663.1:g.216074253G>A	GRCh37
NC_000001.9:g.214140876G>A	NCBI36
NG_009497.1:g.527486C>T
NG_009497.2:g.527538C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.7301-6C>T MANE Select	ENSP00000305941.3:n.7301-6C>T
ENST00000674083.1:c.7301-6C>T	ENSP00000501296.1:n.7301-6C>T
ENST00000307340.7:c.7301-6C>T	ENSP00000305941.3:n.7301-6C>T
NM_206933.2:c.7301-6C>T	NP_996816.2:n.7301-6C>T
NM_206933.3:c.7301-6C>T	NP_996816.2:n.7301-6C>T
NM_206933.4:c.7301-6C>T MANE Select	NP_996816.3:n.7301-6C>T