×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2582401916
Gene: CDKN2D
HGNC
NCBI
Linked Data
gnomAD v4:
19-10568387-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.10568387C>T , CM000681.2:g.10568387C>T
GRCh38
NC_000019.9:g.10679063C>T , CM000681.1:g.10679063C>T
GRCh37
NC_000019.8:g.10540063C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000393599.3:c.141+126G>A
MANE Select
ENSP00000377224.1:n.141+126G>A
ENST00000335766.2:c.141+126G>A
ENSP00000337056.1:n.141+126G>A
ENST00000393599.2:c.141+126G>A
ENSP00000377224.1:n.141+126G>A
NM_001800.3:c.141+126G>A
NP_001791.1:n.141+126G>A
NM_079421.2:c.141+126G>A
NP_524145.1:n.141+126G>A
NM_001800.4:c.141+126G>A
MANE Select
NP_001791.1:n.141+126G>A
NM_079421.3:c.141+126G>A
NP_524145.1:n.141+126G>A
Search 100 bp 5'
Search 100 bp 3'