Canonical Allele Identifier: CA136852385
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs9469030
gnomAD v2: 6-31590489-C-A
gnomAD v3: 6-31622712-C-A
gnomAD v4: 6-31622712-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31622712C>A , CM000668.2:g.31622712C>A GRCh38
NC_000006.11:g.31590489C>A , CM000668.1:g.31590489C>A GRCh37
NC_000006.10:g.31698468C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.-78C>A MANE Select ENSP00000365201.2:n.-78C>A
ENST00000376007.8:c.-63-15C>A ENSP00000365175.4:n.-63-15C>A
ENST00000376033.2:c.-78C>A ENSP00000365201.2:n.-78C>A
ENST00000469577.5:n.136-1549C>A
NM_004638.3:c.-78C>A NP_004629.3:n.-78C>A
NM_080686.2:c.-63-15C>A NP_542417.2:n.-63-15C>A
XM_011514890.1:c.-63-15C>A XP_011513192.1:n.-63-15C>A
NM_004638.4:c.-78C>A MANE Select NP_004629.3:n.-78C>A
NM_080686.3:c.-63-15C>A NP_542417.2:n.-63-15C>A