Canonical Allele Identifier: CA344834094
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1707882
ClinVar RCV Id: RCV002287043 RCV003471315
dbSNP Id: rs1402464909
gnomAD v2: 1-215953307-A-G
gnomAD v4: 1-215779965-A-G
MyVariant Identifiers: chr1:g.215953307A>G (hg19) chr1:g.215779965A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215779965A>G , CM000663.2:g.215779965A>G GRCh38
NC_000001.10:g.215953307A>G , CM000663.1:g.215953307A>G GRCh37
NC_000001.9:g.214019930A>G NCBI36
NG_009497.1:g.648432T>C
NG_009497.2:g.648484T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10817T>C MANE Select ENSP00000305941.3:p.Leu3606Pro
ENST00000674083.1:c.10817T>C ENSP00000501296.1:p.Leu3606Pro
ENST00000307340.7:c.10817T>C ENSP00000305941.3:p.Leu3606Pro
NM_206933.2:c.10817T>C NP_996816.2:p.Leu3606Pro
NM_206933.3:c.10817T>C NP_996816.2:p.Leu3606Pro
NM_206933.4:c.10817T>C MANE Select NP_996816.3:p.Leu3606Pro
Search 100 bp 5'
Search 100 bp 3'