Canonical Allele Identifier: CA143247

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48367
• ClinVar RCV Id: RCV000041688 ; RCV000513396 ; RCV001271138 ; RCV004541215
• dbSNP Id: rs150264392
• ExAC: 1:215933042 C / G
• gnomAD v2: 1-215933042-C-G
• gnomAD v3: 1-215759700-C-G
• gnomAD v4: 1-215759700-C-G
• MyVariant Identifiers: chr1:g.215933042C>G (hg19) ; chr1:g.215759700C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215759700C>G , CM000663.2:g.215759700C>G	GRCh38
NC_000001.10:g.215933042C>G , CM000663.1:g.215933042C>G	GRCh37
NC_000001.9:g.213999665C>G	NCBI36
NG_009497.1:g.668697G>C
NG_009497.2:g.668749G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11191G>C MANE Select	ENSP00000305941.3:p.Glu3731Gln
ENST00000674083.1:c.11191G>C	ENSP00000501296.1:p.Glu3731Gln
ENST00000307340.7:c.11191G>C	ENSP00000305941.3:p.Glu3731Gln
NM_206933.2:c.11191G>C	NP_996816.2:p.Glu3731Gln
NM_206933.3:c.11191G>C	NP_996816.2:p.Glu3731Gln
NM_206933.4:c.11191G>C MANE Select	NP_996816.3:p.Glu3731Gln