Canonical Allele Identifier: CA566355380
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs1190025175
gnomAD v2: 6-31590519-G-A
gnomAD v3: 6-31622742-G-A
gnomAD v4: 6-31622742-G-A
MyVariant Identifiers: chr6:g.31590519G>A (hg19) chr6:g.31590519_31590524delinsAGGGGA (hg19) chr6:g.31622742G>A (hg38) chr6:g.31622742_31622747delinsAGGGGA (hg38)
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Genomic Alleles

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

Transcript Alleles

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