Canonical Allele Identifier: CA224400

Gene: USH2A

Linked Data

• ClinVar Variation Id: 96667
• ClinVar RCV Id: RCV000082831 ; RCV001723661 ; RCV003230399
• dbSNP Id: rs398124620
• ExAC: 1:216062076 A / G
• gnomAD v2: 1-216062076-A-G
• gnomAD v4: 1-215888734-A-G
• MyVariant Identifiers: chr1:g.216062076A>G (hg19) ; chr1:g.215888734A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215888734A>G , CM000663.2:g.215888734A>G	GRCh38
NC_000001.10:g.216062076A>G , CM000663.1:g.216062076A>G	GRCh37
NC_000001.9:g.214128699A>G	NCBI36
NG_009497.1:g.539663T>C
NG_009497.2:g.539715T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.7915T>C MANE Select	ENSP00000305941.3:p.Ser2639Pro
ENST00000674083.1:c.7915T>C	ENSP00000501296.1:p.Ser2639Pro
ENST00000307340.7:c.7915T>C	ENSP00000305941.3:p.Ser2639Pro
NM_206933.2:c.7915T>C	NP_996816.2:p.Ser2639Pro
NM_206933.3:c.7915T>C	NP_996816.2:p.Ser2639Pro
NM_206933.4:c.7915T>C MANE Select	NP_996816.3:p.Ser2639Pro