Canonical Allele Identifier: CA37428237

Gene: USH2A

Linked Data

• dbSNP Id: rs947905892
• gnomAD v2: 1-215990645-TTA-T
• gnomAD v3: 1-215817303-TTA-T
• gnomAD v4: 1-215817303-TTA-T
• MyVariant Identifiers: chr1:g.215990646_215990647del (hg19) ; chr1:g.215817304_215817305del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817309_215817310del , CM000663.2:g.215817309_215817310del	GRCh38
NC_000001.10:g.215990651_215990652del , CM000663.1:g.215990651_215990652del	GRCh37
NC_000001.9:g.214057274_214057275del	NCBI36
NG_009497.1:g.611092_611093del
NG_009497.2:g.611144_611145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-110_9372-109del MANE Select	ENSP00000305941.3:n.9372-110_9372-109del
ENST00000674083.1:c.9372-110_9372-109del	ENSP00000501296.1:n.9372-110_9372-109del
ENST00000307340.7:c.9372-110_9372-109del	ENSP00000305941.3:n.9372-110_9372-109del
NM_206933.2:c.9372-110_9372-109del	NP_996816.2:n.9372-110_9372-109del
NM_206933.3:c.9372-110_9372-109del	NP_996816.2:n.9372-110_9372-109del
NM_206933.4:c.9372-110_9372-109del MANE Select	NP_996816.3:n.9372-110_9372-109del