Canonical Allele Identifier: CA344865319

Gene: USH2A

Linked Data

• MyVariant Identifiers: chr1:g.216420467T>G (hg19) ; chr1:g.216247125T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247125T>G , CM000663.2:g.216247125T>G	GRCh38
NC_000001.10:g.216420467T>G , CM000663.1:g.216420467T>G	GRCh37
NC_000001.9:g.214487090T>G	NCBI36
NG_009497.1:g.181272A>C
NG_009497.2:g.181324A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.2269A>C MANE Select	ENSP00000305941.3:p.Lys757Gln
ENST00000674083.1:c.2269A>C	ENSP00000501296.1:p.Lys757Gln
ENST00000307340.7:c.2269A>C	ENSP00000305941.3:p.Lys757Gln
ENST00000366942.3:c.2269A>C	ENSP00000355909.3:p.Lys757Gln
NM_007123.5:c.2269A>C	NP_009054.5:p.Lys757Gln
NM_206933.2:c.2269A>C	NP_996816.2:p.Lys757Gln
NM_206933.3:c.2269A>C	NP_996816.2:p.Lys757Gln
NM_007123.6:c.2269A>C	NP_009054.6:p.Lys757Gln
NM_206933.4:c.2269A>C MANE Select	NP_996816.3:p.Lys757Gln