Canonical Allele Identifier: CA262116

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48579
• ClinVar RCV Id: RCV000041905 ; RCV001205092 ; RCV003450885 ; RCV003466893
• dbSNP Id: rs397518029
• gnomAD v4: 1-215934672-G-C
• MyVariant Identifiers: chr1:g.216108014G>C (hg19) ; chr1:g.215934672G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215934672G>C , CM000663.2:g.215934672G>C	GRCh38
NC_000001.10:g.216108014G>C , CM000663.1:g.216108014G>C	GRCh37
NC_000001.9:g.214174637G>C	NCBI36
NG_009497.1:g.493725C>G
NG_009497.2:g.493777C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.7244C>G MANE Select	ENSP00000305941.3:p.Ser2415Ter
ENST00000674083.1:c.7244C>G	ENSP00000501296.1:p.Ser2415Ter
ENST00000307340.7:c.7244C>G	ENSP00000305941.3:p.Ser2415Ter
NM_206933.2:c.7244C>G	NP_996816.2:p.Ser2415Ter
NM_206933.3:c.7244C>G	NP_996816.2:p.Ser2415Ter
NM_206933.4:c.7244C>G MANE Select	NP_996816.3:p.Ser2415Ter