Canonical Allele Identifier: CA1087462948
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs1775424360
gnomAD v3: 6-31622678-T-C
gnomAD v4: 6-31622678-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31622678T>C , CM000668.2:g.31622678T>C GRCh38
NC_000006.11:g.31590455T>C , CM000668.1:g.31590455T>C GRCh37
NC_000006.10:g.31698434T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.-100-12T>C MANE Select ENSP00000365201.2:n.-100-12T>C
ENST00000376007.8:c.-63-49T>C ENSP00000365175.4:n.-63-49T>C
ENST00000376033.2:c.-100-12T>C ENSP00000365201.2:n.-100-12T>C
ENST00000469577.5:n.136-1583T>C
NM_004638.3:c.-100-12T>C NP_004629.3:n.-100-12T>C
NM_080686.2:c.-63-49T>C NP_542417.2:n.-63-49T>C
XM_011514890.1:c.-63-49T>C XP_011513192.1:n.-63-49T>C
NM_004638.4:c.-100-12T>C MANE Select NP_004629.3:n.-100-12T>C
NM_080686.3:c.-63-49T>C NP_542417.2:n.-63-49T>C
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