Canonical Allele Identifier: CA566690425
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs1561838177
gnomAD v2: 6-31602887-C-G
gnomAD v4: 6-31635110-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31635110C>G , CM000668.2:g.31635110C>G GRCh38
NC_000006.11:g.31602887C>G , CM000668.1:g.31602887C>G GRCh37
NC_000006.10:g.31710866C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.5161-22C>G MANE Select ENSP00000365201.2:n.5161-22C>G
ENST00000376007.8:c.5161-22C>G ENSP00000365175.4:n.5161-22C>G
ENST00000376033.2:c.5161-22C>G ENSP00000365201.2:n.5161-22C>G
ENST00000484787.1:n.572-22C>G
NM_004638.3:c.5161-22C>G NP_004629.3:n.5161-22C>G
NM_080686.2:c.5161-22C>G NP_542417.2:n.5161-22C>G
XM_011514890.1:c.5161-22C>G XP_011513192.1:n.5161-22C>G
XM_017011274.1:c.5161-22C>G XP_016866763.1:n.5161-22C>G
NM_004638.4:c.5161-22C>G MANE Select NP_004629.3:n.5161-22C>G
NM_080686.3:c.5161-22C>G NP_542417.2:n.5161-22C>G