Canonical Allele Identifier: CA3714917
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs756854301
gnomAD v2: 6-31590709-T-A
gnomAD v3: 6-31622932-T-A
gnomAD v4: 6-31622932-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31622932T>A , CM000668.2:g.31622932T>A GRCh38
NC_000006.11:g.31590709T>A , CM000668.1:g.31590709T>A GRCh37
NC_000006.10:g.31698688T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.112+31T>A MANE Select ENSP00000365201.2:n.112+31T>A
ENST00000376007.8:c.112+31T>A ENSP00000365175.4:n.112+31T>A
ENST00000376033.2:c.112+31T>A ENSP00000365201.2:n.112+31T>A
ENST00000469577.5:n.136-1329T>A
NM_004638.3:c.112+31T>A NP_004629.3:n.112+31T>A
NM_080686.2:c.112+31T>A NP_542417.2:n.112+31T>A
XM_011514890.1:c.112+31T>A XP_011513192.1:n.112+31T>A
XM_017011274.1:c.112+31T>A XP_016866763.1:n.112+31T>A
NM_004638.4:c.112+31T>A MANE Select NP_004629.3:n.112+31T>A
NM_080686.3:c.112+31T>A NP_542417.2:n.112+31T>A