Canonical Allele Identifier: CA136852528
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs535373135
gnomAD v2: 6-31590681-G-A
gnomAD v4: 6-31622904-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31622904G>A , CM000668.2:g.31622904G>A GRCh38
NC_000006.11:g.31590681G>A , CM000668.1:g.31590681G>A GRCh37
NC_000006.10:g.31698660G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.112+3G>A MANE Select ENSP00000365201.2:n.112+3G>A
ENST00000376007.8:c.112+3G>A ENSP00000365175.4:n.112+3G>A
ENST00000376033.2:c.112+3G>A ENSP00000365201.2:n.112+3G>A
ENST00000469577.5:n.136-1357G>A
NM_004638.3:c.112+3G>A NP_004629.3:n.112+3G>A
NM_080686.2:c.112+3G>A NP_542417.2:n.112+3G>A
XM_011514890.1:c.112+3G>A XP_011513192.1:n.112+3G>A
XM_017011274.1:c.112+3G>A XP_016866763.1:n.112+3G>A
NM_004638.4:c.112+3G>A MANE Select NP_004629.3:n.112+3G>A
NM_080686.3:c.112+3G>A NP_542417.2:n.112+3G>A