Canonical Allele Identifier: CA916079398

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.[215675463T>C;216084853C>T] , CM000663.2:g.[215675463T>C;216084853C>T]	GRCh38
NC_000001.10:g.[215848805T>C;216258195C>T] , CM000663.1:g.[215848805T>C;216258195C>T]	GRCh37
NC_000001.9:g.[213915428T>C;214324818C>T]	NCBI36
NG_009497.1:g.[343544G>A;752934A>G]
NG_009497.2:g.[343596G>A;752986A>G]

Transcript Alleles

HGVS	Amino-acid Change
NM_206933.4:c.[5012G>A;12448A>G] MANE Select	NP_996816.3:p.[Gly1671Asp;Thr4150Ala]
ENST00000307340.8:c.[5012G>A;12448A>G] MANE Select	ENSP00000305941.3:p.[Gly1671Asp;Thr4150Ala]
NM_206933.2:c.[5012G>A;12448A>G]	NP_996816.2:p.[Gly1671Asp;Thr4150Ala]
NM_206933.3:c.[5012G>A;12448A>G]	NP_996816.2:p.[Gly1671Asp;Thr4150Ala]
ENST00000307340.7:c.[5012G>A;12448A>G]	ENSP00000305941.3:p.[Gly1671Asp;Thr4150Ala]
ENST00000674083.1:c.[5012G>A;12448A>G]	ENSP00000501296.1:p.[Gly1671Asp;Thr4150Ala]