Canonical Allele Identifier: CA423312045

Gene: USH2A

Linked Data

• MyVariant Identifiers: chr1:g.215939954T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215766612T>A , CM000663.2:g.215766612T>A	GRCh38
NC_000001.10:g.215939954T>A , CM000663.1:g.215939954T>A	GRCh37
NC_000001.9:g.214006577T>A	NCBI36
NG_009497.1:g.661785A>T
NG_009497.2:g.661837A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11047+69A>T MANE Select	ENSP00000305941.3:n.11047+69A>T
ENST00000674083.1:c.11047+69A>T	ENSP00000501296.1:n.11047+69A>T
ENST00000307340.7:c.11047+69A>T	ENSP00000305941.3:n.11047+69A>T
NM_206933.2:c.11047+69A>T	NP_996816.2:n.11047+69A>T
NM_206933.3:c.11047+69A>T	NP_996816.2:n.11047+69A>T
NM_206933.4:c.11047+69A>T MANE Select	NP_996816.3:n.11047+69A>T