Canonical Allele Identifier: CA1393098

Gene: USH2A

Linked Data

• ClinVar Variation Id: 229621
• ClinVar RCV Id: RCV000221554 ; RCV000763827 ; RCV001272936 ; RCV001422550
• dbSNP Id: rs148674752
• ExAC: 1:215824086 C / T
• gnomAD v2: 1-215824086-C-T
• gnomAD v3: 1-215650744-C-T
• gnomAD v4: 1-215650744-C-T
• COSMIC: COSM385393
• MyVariant Identifiers: chr1:g.215824086C>T (hg19) ; chr1:g.215650744C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215650744C>T , CM000663.2:g.215650744C>T	GRCh38
NC_000001.10:g.215824086C>T , CM000663.1:g.215824086C>T	GRCh37
NC_000001.9:g.213890709C>T	NCBI36
NG_009497.1:g.777653G>A
NG_009497.2:g.777705G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14191G>A MANE Select	ENSP00000305941.3:p.Gly4731Arg
ENST00000674083.1:c.14191G>A	ENSP00000501296.1:p.Gly4731Arg
ENST00000307340.7:c.14191G>A	ENSP00000305941.3:p.Gly4731Arg
NM_206933.2:c.14191G>A	NP_996816.2:p.Gly4731Arg
NM_206933.3:c.14191G>A	NP_996816.2:p.Gly4731Arg
NM_206933.4:c.14191G>A MANE Select	NP_996816.3:p.Gly4731Arg