Canonical Allele Identifier: CA2747717663
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675321_215675322insATCTTCCAGTCTCCCCTTCCTCATCAATAGC , CM000663.2:g.215675321_215675322insATCTTCCAGTCTCCCCTTCCTCATCAATAGC GRCh38
NC_000001.10:g.215848663_215848664insATCTTCCAGTCTCCCCTTCCTCATCAATAGC , CM000663.1:g.215848663_215848664insATCTTCCAGTCTCCCCTTCCTCATCAATAGC GRCh37
NC_000001.9:g.213915286_213915287insATCTTCCAGTCTCCCCTTCCTCATCAATAGC NCBI36
NG_009497.1:g.753076_753077insCTATTGATGAGGAAGGGGAGACTGGAAGATG
NG_009497.2:g.753128_753129insCTATTGATGAGGAAGGGGAGACTGGAAGATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12590_12591insCTATTGATGAGGAAGGGGAGACTGGAAGATG MANE Select ENSP00000305941.3:p.Lys4198TyrfsTer2
ENST00000674083.1:c.12590_12591insCTATTGATGAGGAAGGGGAGACTGGAAGATG ENSP00000501296.1:p.Lys4198TyrfsTer2
ENST00000307340.7:c.12590_12591insCTATTGATGAGGAAGGGGAGACTGGAAGATG ENSP00000305941.3:p.Lys4198TyrfsTer2
NM_206933.2:c.12590_12591insCTATTGATGAGGAAGGGGAGACTGGAAGATG NP_996816.2:p.Lys4198TyrfsTer2
NM_206933.3:c.12590_12591insCTATTGATGAGGAAGGGGAGACTGGAAGATG NP_996816.2:p.Lys4198TyrfsTer2
NM_206933.4:c.12590_12591insCTATTGATGAGGAAGGGGAGACTGGAAGATG MANE Select NP_996816.3:p.Lys4198TyrfsTer2
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