Canonical Allele Identifier: CA11105434
Gene: PDCD1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.241851760C>T
GRCh37 chr2:g.242793912C>T
gnomAD v2:
2:242793912 C / T
gnomAD v3:
2:241851760 C / T
gnomAD v4:
chr2-241851760-C-T
Joint Max Group AF 0.12353609 (MID)
Genomes Max Group AF 0.11170884 (NFE)
ClinVar RCV:
RCV001677921
ClinVar Variation:
1265148
dbSNP:
11568821
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241851760C>T , CM000664.2:g.241851760C>T GRCh38
NC_000002.11:g.242793912C>T , CM000664.1:g.242793912C>T GRCh37
NC_000002.10:g.242442585C>T NCBI36
NG_012110.1:g.12147G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000334409.10:c.627+189G>A MANE Select ENSP00000335062.5:n.627+189G>A
ENST00000334409.9:c.627+189G>A ENSP00000335062.5:n.627+189G>A
ENST00000343705.3:c.301+189G>A
ENST00000418831.1:c.*190+189G>A ENSP00000390296.1:n.*190+189G>A
NM_005018.2:c.627+189G>A NP_005009.2:n.627+189G>A
XM_017004293.1:c.627+189G>A XP_016859782.1:n.627+189G>A
NM_005018.3:c.627+189G>A MANE Select NP_005009.2:n.627+189G>A
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