Canonical Allele Identifier: CA143356

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48440
• ClinVar RCV Id: RCV000041763 ; RCV000665634 ; RCV001034422 ; RCV001272933 ; RCV001579147 ; RCV003887899
• dbSNP Id: rs139065588
• ExAC: 1:215821936 G / A
• gnomAD v2: 1-215821936-G-A
• gnomAD v3: 1-215648594-G-A
• gnomAD v4: 1-215648594-G-A
• COSMIC: COSM678641 ; COSM4231140
• MyVariant Identifiers: chr1:g.215821936G>A (hg19) ; chr1:g.215648594G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215648594G>A , CM000663.2:g.215648594G>A	GRCh38
NC_000001.10:g.215821936G>A , CM000663.1:g.215821936G>A	GRCh37
NC_000001.9:g.213888559G>A	NCBI36
NG_009497.1:g.779803C>T
NG_009497.2:g.779855C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14516C>T MANE Select	ENSP00000305941.3:p.Thr4839Met
ENST00000674083.1:c.14516C>T	ENSP00000501296.1:p.Thr4839Met
ENST00000307340.7:c.14516C>T	ENSP00000305941.3:p.Thr4839Met
NM_206933.2:c.14516C>T	NP_996816.2:p.Thr4839Met
NM_206933.3:c.14516C>T	NP_996816.2:p.Thr4839Met
NM_206933.4:c.14516C>T MANE Select	NP_996816.3:p.Thr4839Met