Canonical Allele Identifier: CA731330012

Gene: USH2A

Linked Data

• dbSNP Id: rs1259506870
• MyVariant Identifiers: chr1:g.215940254_215940257del (hg19) ; chr1:g.215766912_215766915del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215766912_215766915del , CM000663.2:g.215766912_215766915del	GRCh38
NC_000001.10:g.215940254_215940257del , CM000663.1:g.215940254_215940257del	GRCh37
NC_000001.9:g.214006877_214006880del	NCBI36
NG_009497.1:g.661482_661485del
NG_009497.2:g.661534_661537del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10940-127_10940-124del MANE Select	ENSP00000305941.3:n.10940-127_10940-124del
ENST00000674083.1:c.10940-127_10940-124del	ENSP00000501296.1:n.10940-127_10940-124del
ENST00000307340.7:c.10940-127_10940-124del	ENSP00000305941.3:n.10940-127_10940-124del
NM_206933.2:c.10940-127_10940-124del	NP_996816.2:n.10940-127_10940-124del
NM_206933.3:c.10940-127_10940-124del	NP_996816.2:n.10940-127_10940-124del
NM_206933.4:c.10940-127_10940-124del MANE Select	NP_996816.3:n.10940-127_10940-124del