Canonical Allele Identifier: CA1392937

Gene: USH2A

Linked Data

• ClinVar Variation Id: 286366
• ClinVar RCV Id: RCV000311667 ; RCV001833360
• dbSNP Id: rs778669346
• ExAC: 1:215820895 G / A
• gnomAD v2: 1-215820895-G-A
• gnomAD v3: 1-215647553-G-A
• gnomAD v4: 1-215647553-G-A
• COSMIC: COSM344966
• MyVariant Identifiers: chr1:g.215820895G>A (hg19) ; chr1:g.215647553G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215647553G>A , CM000663.2:g.215647553G>A	GRCh38
NC_000001.10:g.215820895G>A , CM000663.1:g.215820895G>A	GRCh37
NC_000001.9:g.213887518G>A	NCBI36
NG_009497.1:g.780844C>T
NG_009497.2:g.780896C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14760C>T MANE Select	ENSP00000305941.3:p.Ser4920=
ENST00000674083.1:c.14760C>T	ENSP00000501296.1:p.Ser4920=
ENST00000307340.7:c.14760C>T	ENSP00000305941.3:p.Ser4920=
NM_206933.2:c.14760C>T	NP_996816.2:p.Ser4920=
NM_206933.3:c.14760C>T	NP_996816.2:p.Ser4920=
NM_206933.4:c.14760C>T MANE Select	NP_996816.3:p.Ser4920=