Canonical Allele Identifier: CA344849428
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1657974750
gnomAD v3: 1-215675166-T-G
gnomAD v4: 1-215675166-T-G
MyVariant Identifiers: chr1:g.215848508T>G (hg19) chr1:g.215675166T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675166T>G , CM000663.2:g.215675166T>G GRCh38
NC_000001.10:g.215848508T>G , CM000663.1:g.215848508T>G GRCh37
NC_000001.9:g.213915131T>G NCBI36
NG_009497.1:g.753231A>C
NG_009497.2:g.753283A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12745A>C MANE Select ENSP00000305941.3:p.Thr4249Pro
ENST00000674083.1:c.12745A>C ENSP00000501296.1:p.Thr4249Pro
ENST00000307340.7:c.12745A>C ENSP00000305941.3:p.Thr4249Pro
NM_206933.2:c.12745A>C NP_996816.2:p.Thr4249Pro
NM_206933.3:c.12745A>C NP_996816.2:p.Thr4249Pro
NM_206933.4:c.12745A>C MANE Select NP_996816.3:p.Thr4249Pro
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