Canonical Allele Identifier: CA731338873

Gene: USH2A

Linked Data

• dbSNP Id: rs113679622
• MyVariant Identifiers: chr1:g.215955735G>T (hg19) ; chr1:g.215782393G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782393G>T , CM000663.2:g.215782393G>T	GRCh38
NC_000001.10:g.215955735G>T , CM000663.1:g.215955735G>T	GRCh37
NC_000001.9:g.214022358G>T	NCBI36
NG_009497.1:g.646004C>A
NG_009497.2:g.646056C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-197C>A MANE Select	ENSP00000305941.3:n.10586-197C>A
ENST00000674083.1:c.10586-197C>A	ENSP00000501296.1:n.10586-197C>A
ENST00000307340.7:c.10586-197C>A	ENSP00000305941.3:n.10586-197C>A
NM_206933.2:c.10586-197C>A	NP_996816.2:n.10586-197C>A
NM_206933.3:c.10586-197C>A	NP_996816.2:n.10586-197C>A
NM_206933.4:c.10586-197C>A MANE Select	NP_996816.3:n.10586-197C>A