Canonical Allele Identifier: CA2747721934

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799231G>C , CM000663.2:g.215799231G>C	GRCh38
NC_000001.10:g.215972573G>C , CM000663.1:g.215972573G>C	GRCh37
NC_000001.9:g.214039196G>C	NCBI36
NG_009497.1:g.629166C>G
NG_009497.2:g.629218C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9740-106C>G MANE Select	ENSP00000305941.3:n.9740-106C>G
ENST00000674083.1:c.9740-106C>G	ENSP00000501296.1:n.9740-106C>G
ENST00000307340.7:c.9740-106C>G	ENSP00000305941.3:n.9740-106C>G
NM_206933.2:c.9740-106C>G	NP_996816.2:n.9740-106C>G
NM_206933.3:c.9740-106C>G	NP_996816.2:n.9740-106C>G
NM_206933.4:c.9740-106C>G MANE Select	NP_996816.3:n.9740-106C>G