Canonical Allele Identifier: CA1394220

Gene: USH2A

Linked Data

• dbSNP Id: rs570710986
• ExAC: 1:215972504 T / TA
• gnomAD v2: 1-215972504-T-TA
• gnomAD v3: 1-215799162-T-TA
• gnomAD v4: 1-215799162-T-TA
• MyVariant Identifiers: chr1:g.215972505_215972506insA (hg19) ; chr1:g.215972504_215972505insA (hg19) ; chr1:g.215799163_215799164insA (hg38) ; chr1:g.215799162_215799163insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799169dup , CM000663.2:g.215799169dup	GRCh38
NC_000001.10:g.215972511dup , CM000663.1:g.215972511dup	GRCh37
NC_000001.9:g.214039134dup	NCBI36
NG_009497.1:g.629234dup
NG_009497.2:g.629286dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9740-38dup MANE Select	ENSP00000305941.3:n.9740-38dup
ENST00000674083.1:c.9740-38dup	ENSP00000501296.1:n.9740-38dup
ENST00000307340.7:c.9740-38dup	ENSP00000305941.3:n.9740-38dup
NM_206933.2:c.9740-38dup	NP_996816.2:n.9740-38dup
NM_206933.3:c.9740-38dup	NP_996816.2:n.9740-38dup
NM_206933.4:c.9740-38dup MANE Select	NP_996816.3:n.9740-38dup