Canonical Allele Identifier: CA11143161
Gene: PDCD1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.241851697G>A
GRCh37 chr2:g.242793849G>A
gnomAD v2:
2:242793849 G / A
gnomAD v3:
2:241851697 G / A
gnomAD v4:
chr2-241851697-G-A
Joint Max Group AF 0.20733958 (EAS)
Genomes Max Group AF 0.20733958 (EAS)
ClinVar RCV:
RCV001680185
ClinVar Variation:
1270664
dbSNP:
41386349
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241851697G>A , CM000664.2:g.241851697G>A GRCh38
NC_000002.11:g.242793849G>A , CM000664.1:g.242793849G>A GRCh37
NC_000002.10:g.242442522G>A NCBI36
NG_012110.1:g.12210C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334409.10:c.627+252C>T MANE Select ENSP00000335062.5:n.627+252C>T
ENST00000334409.9:c.627+252C>T ENSP00000335062.5:n.627+252C>T
ENST00000343705.3:c.301+252C>T
ENST00000418831.1:c.*190+252C>T ENSP00000390296.1:n.*190+252C>T
NM_005018.2:c.627+252C>T NP_005009.2:n.627+252C>T
XM_017004293.1:c.627+252C>T XP_016859782.1:n.627+252C>T
NM_005018.3:c.627+252C>T MANE Select NP_005009.2:n.627+252C>T
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