Canonical Allele Identifier: CA363364923
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs1777191863
gnomAD v3: 6-31635265-G-C
gnomAD v4: 6-31635265-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31635265G>C , CM000668.2:g.31635265G>C GRCh38
NC_000006.11:g.31603042G>C , CM000668.1:g.31603042G>C GRCh37
NC_000006.10:g.31711021G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.5294G>C MANE Select ENSP00000365201.2:p.Ser1765Thr
ENST00000376007.8:c.5294G>C ENSP00000365175.4:p.Ser1765Thr
ENST00000376033.2:c.5294G>C ENSP00000365201.2:p.Ser1765Thr
ENST00000469501.1:n.24G>C
ENST00000484787.1:n.705G>C
NM_004638.3:c.5294G>C NP_004629.3:p.Ser1765Thr
NM_080686.2:c.5294G>C NP_542417.2:p.Ser1765Thr
XM_011514890.1:c.5294G>C XP_011513192.1:p.Ser1765Thr
XM_017011274.1:c.5294G>C XP_016866763.1:p.Ser1765Thr
NM_004638.4:c.5294G>C MANE Select NP_004629.3:p.Ser1765Thr
NM_080686.3:c.5294G>C NP_542417.2:p.Ser1765Thr