Canonical Allele Identifier: CA11143160
Gene: PDCD1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.241850169C>T
GRCh37 chr2:g.242792321C>T
gnomAD v2:
2:242792321 C / T
gnomAD v3:
2:241850169 C / T
gnomAD v4:
chr2-241850169-C-T
Joint Max Group AF 0.72471374 (EAS)
Genomes Max Group AF 0.67637056 (EAS)
Exomes Max Group AF 0.74080895 (EAS)
ClinVar RCV:
RCV001659232
ClinVar Variation:
1255049
dbSNP:
10204525
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241850169C>T , CM000664.2:g.241850169C>T GRCh38
NC_000002.11:g.242792321C>T , CM000664.1:g.242792321C>T GRCh37
NC_000002.10:g.242440994C>T NCBI36
NG_012110.1:g.13738G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000334409.10:c.*889G>A MANE Select ENSP00000335062.5:n.*889G>A
ENST00000334409.9:c.*889G>A ENSP00000335062.5:n.*889G>A
NM_005018.2:c.*889G>A NP_005009.2:n.*889G>A
XM_017004293.1:c.*889G>A XP_016859782.1:n.*889G>A
NM_005018.3:c.*889G>A MANE Select NP_005009.2:n.*889G>A
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