Canonical Allele Identifier: CA2677997059
Gene: PRRC2A HGNC NCBI

Linked Data

gnomAD v4: 6-31622742-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31622742G>C , CM000668.2:g.31622742G>C GRCh38
NC_000006.11:g.31590519G>C , CM000668.1:g.31590519G>C GRCh37
NC_000006.10:g.31698498G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.-48G>C MANE Select ENSP00000365201.2:n.-48G>C
ENST00000376007.8:c.-48G>C ENSP00000365175.4:n.-48G>C
ENST00000376033.2:c.-48G>C ENSP00000365201.2:n.-48G>C
ENST00000469577.5:n.136-1519G>C
NM_004638.3:c.-48G>C NP_004629.3:n.-48G>C
NM_080686.2:c.-48G>C NP_542417.2:n.-48G>C
XM_011514890.1:c.-48G>C XP_011513192.1:n.-48G>C
NM_004638.4:c.-48G>C MANE Select NP_004629.3:n.-48G>C
NM_080686.3:c.-48G>C NP_542417.2:n.-48G>C
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