Canonical Allele Identifier: CA344826841
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 862981
ClinVar RCV Id: RCV001069834
dbSNP Id: rs1265251013
gnomAD v2: 1-215901398-G-A
gnomAD v3: 1-215728056-G-A
gnomAD v4: 1-215728056-G-A
MyVariant Identifiers: chr1:g.215901398G>A (hg19) chr1:g.215728056G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728056G>A , CM000663.2:g.215728056G>A GRCh38
NC_000001.10:g.215901398G>A , CM000663.1:g.215901398G>A GRCh37
NC_000001.9:g.213968021G>A NCBI36
NG_009497.1:g.700341C>T
NG_009497.2:g.700393C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12040C>T MANE Select ENSP00000305941.3:p.Pro4014Ser
ENST00000674083.1:c.12040C>T ENSP00000501296.1:p.Pro4014Ser
ENST00000307340.7:c.12040C>T ENSP00000305941.3:p.Pro4014Ser
NM_206933.2:c.12040C>T NP_996816.2:p.Pro4014Ser
NM_206933.3:c.12040C>T NP_996816.2:p.Pro4014Ser
NM_206933.4:c.12040C>T MANE Select NP_996816.3:p.Pro4014Ser
Search 100 bp 5'
Search 100 bp 3'