Canonical Allele Identifier: CA1392714

Gene: USH2A

Linked Data

• ClinVar Variation Id: 283871
• ClinVar RCV Id: RCV000387659 ; RCV001271909
• dbSNP Id: rs149506333
• ExAC: 1:215802369 G / A
• gnomAD v2: 1-215802369-G-A
• gnomAD v3: 1-215629027-G-A
• gnomAD v4: 1-215629027-G-A
• MyVariant Identifiers: chr1:g.215802369G>A (hg19) ; chr1:g.215629027G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215629027G>A , CM000663.2:g.215629027G>A	GRCh38
NC_000001.10:g.215802369G>A , CM000663.1:g.215802369G>A	GRCh37
NC_000001.9:g.213868992G>A	NCBI36
NG_009497.1:g.799370C>T
NG_009497.2:g.799422C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.15306C>T MANE Select	ENSP00000305941.3:p.Ala5102=
ENST00000674083.1:c.15378C>T	ENSP00000501296.1:p.Ala5126=
ENST00000307340.7:c.15306C>T	ENSP00000305941.3:p.Ala5102=
NM_206933.2:c.15306C>T	NP_996816.2:p.Ala5102=
NM_206933.3:c.15306C>T	NP_996816.2:p.Ala5102=
NM_206933.4:c.15306C>T MANE Select	NP_996816.3:p.Ala5102=