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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
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Canonical Allele Identifier:
CA372799535
Gene: KCNV2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.2718556T>G (hg19)
chr9:g.2718556T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.2718556T>G , CM000671.2:g.2718556T>G
GRCh38
NC_000009.11:g.2718556T>G , CM000671.1:g.2718556T>G
GRCh37
NC_000009.10:g.2708556T>G
NCBI36
NG_012181.1:g.6031T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000382082.4:c.817T>G
MANE Select
ENSP00000371514.3:p.Ser273Ala
ENST00000382082.3:c.817T>G
ENSP00000371514.3:p.Ser273Ala
NM_133497.3:c.817T>G
NP_598004.1:p.Ser273Ala
XR_929202.1:n.1318T>G
XR_929203.1:n.1318T>G
NM_133497.4:c.817T>G
MANE Select
NP_598004.1:p.Ser273Ala
Search 100 bp 5'
Search 100 bp 3'