Canonical Allele Identifier: CA204728
Gene: PCBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 208707
ClinVar RCV Id: RCV000190723
dbSNP Id: rs797044899
COSMIC: COSM3357605
MyVariant Identifiers: chr2:g.70315425C>T (hg19) chr2:g.70088293C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70088293C>T , CM000664.2:g.70088293C>T GRCh38
NC_000002.11:g.70315425C>T , CM000664.1:g.70315425C>T GRCh37
NC_000002.10:g.70168929C>T NCBI36
NG_029956.1:g.5841C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303577.7:c.550C>T MANE Select ENSP00000305556.5:p.Gln184Ter
ENST00000303577.6:c.550C>T ENSP00000305556.5:p.Gln184Ter
NM_006196.3:c.550C>T NP_006187.2:p.Gln184Ter
NM_006196.4:c.550C>T MANE Select NP_006187.2:p.Gln184Ter
Search 100 bp 5'
Search 100 bp 3'