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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1393512
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
440397
ClinVar RCV Id:
RCV000505942
RCV001834643
dbSNP Id:
rs751834009
ExAC:
1:215853512 C / T
gnomAD v2:
1-215853512-C-T
gnomAD v3:
1-215680170-C-T
gnomAD v4:
1-215680170-C-T
COSMIC:
COSM903856
COSM4868341
MyVariant Identifiers:
chr1:g.215853512C>T (hg19)
chr1:g.215680170C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.215680170C>T , CM000663.2:g.215680170C>T
GRCh38
NC_000001.10:g.215853512C>T , CM000663.1:g.215853512C>T
GRCh37
NC_000001.9:g.213920135C>T
NCBI36
NG_009497.1:g.748227G>A
NG_009497.2:g.748279G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000307340.8:c.12273G>A
MANE Select
ENSP00000305941.3:p.Met4091Ile
ENST00000674083.1:c.12273G>A
ENSP00000501296.1:p.Met4091Ile
ENST00000307340.7:c.12273G>A
ENSP00000305941.3:p.Met4091Ile
NM_206933.2:c.12273G>A
NP_996816.2:p.Met4091Ile
NM_206933.3:c.12273G>A
NP_996816.2:p.Met4091Ile
NM_206933.4:c.12273G>A
MANE Select
NP_996816.3:p.Met4091Ile
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