Canonical Allele Identifier: CA344845416

Gene: USH2A

Linked Data

• gnomAD v4: 1-215674518-T-G
• MyVariant Identifiers: chr1:g.215847860T>G (hg19) ; chr1:g.215674518T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215674518T>G , CM000663.2:g.215674518T>G	GRCh38
NC_000001.10:g.215847860T>G , CM000663.1:g.215847860T>G	GRCh37
NC_000001.9:g.213914483T>G	NCBI36
NG_009497.1:g.753879A>C
NG_009497.2:g.753931A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13393A>C MANE Select	ENSP00000305941.3:p.Lys4465Gln
ENST00000674083.1:c.13393A>C	ENSP00000501296.1:p.Lys4465Gln
ENST00000307340.7:c.13393A>C	ENSP00000305941.3:p.Lys4465Gln
NM_206933.2:c.13393A>C	NP_996816.2:p.Lys4465Gln
NM_206933.3:c.13393A>C	NP_996816.2:p.Lys4465Gln
NM_206933.4:c.13393A>C MANE Select	NP_996816.3:p.Lys4465Gln