Canonical Allele Identifier: CA1220619313

Gene: USH2A

Linked Data

• ClinVar Variation Id: 1104737
• ClinVar RCV Id: RCV001428881
• dbSNP Id: rs1370448980
• gnomAD v4: 1-216247232-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247232G>A , CM000663.2:g.216247232G>A	GRCh38
NC_000001.10:g.216420574G>A , CM000663.1:g.216420574G>A	GRCh37
NC_000001.9:g.214487197G>A	NCBI36
NG_009497.1:g.181165C>T
NG_009497.2:g.181217C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2168-6C>T MANE Select	ENSP00000305941.3:n.2168-6C>T
ENST00000674083.1:c.2168-6C>T	ENSP00000501296.1:n.2168-6C>T
ENST00000307340.7:c.2168-6C>T	ENSP00000305941.3:n.2168-6C>T
ENST00000366942.3:c.2168-6C>T	ENSP00000355909.3:n.2168-6C>T
NM_007123.5:c.2168-6C>T	NP_009054.5:n.2168-6C>T
NM_206933.2:c.2168-6C>T	NP_996816.2:n.2168-6C>T
NM_206933.3:c.2168-6C>T	NP_996816.2:n.2168-6C>T
NM_007123.6:c.2168-6C>T	NP_009054.6:n.2168-6C>T
NM_206933.4:c.2168-6C>T MANE Select	NP_996816.3:n.2168-6C>T