Canonical Allele Identifier: CA344850876

Gene: USH2A

Linked Data

• ClinVar Variation Id: 493061
• ClinVar RCV Id: RCV000585084 ; RCV001003256 ; RCV001269243 ; RCV001835857
• dbSNP Id: rs1172628170
• gnomAD v3: 1-215675463-T-C
• gnomAD v4: 1-215675463-T-C
• MyVariant Identifiers: chr1:g.215848805T>C (hg19) ; chr1:g.215675463T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215675463T>C , CM000663.2:g.215675463T>C	GRCh38
NC_000001.10:g.215848805T>C , CM000663.1:g.215848805T>C	GRCh37
NC_000001.9:g.213915428T>C	NCBI36
NG_009497.1:g.752934A>G
NG_009497.2:g.752986A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.12448A>G MANE Select	ENSP00000305941.3:p.Thr4150Ala
ENST00000674083.1:c.12448A>G	ENSP00000501296.1:p.Thr4150Ala
ENST00000307340.7:c.12448A>G	ENSP00000305941.3:p.Thr4150Ala
NM_206933.2:c.12448A>G	NP_996816.2:p.Thr4150Ala
NM_206933.3:c.12448A>G	NP_996816.2:p.Thr4150Ala
NM_206933.4:c.12448A>G MANE Select	NP_996816.3:p.Thr4150Ala