Canonical Allele Identifier: CA449796996
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs1185488178
gnomAD v3: 6-31635272-G-A
gnomAD v4: 6-31635272-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31635272G>A , CM000668.2:g.31635272G>A GRCh38
NC_000006.11:g.31603049G>A , CM000668.1:g.31603049G>A GRCh37
NC_000006.10:g.31711028G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.5301G>A MANE Select ENSP00000365201.2:p.Lys1767=
ENST00000376007.8:c.5301G>A ENSP00000365175.4:p.Lys1767=
ENST00000376033.2:c.5301G>A ENSP00000365201.2:p.Lys1767=
ENST00000469501.1:n.31G>A
ENST00000484787.1:n.712G>A
NM_004638.3:c.5301G>A NP_004629.3:p.Lys1767=
NM_080686.2:c.5301G>A NP_542417.2:p.Lys1767=
XM_011514890.1:c.5301G>A XP_011513192.1:p.Lys1767=
XM_017011274.1:c.5301G>A XP_016866763.1:p.Lys1767=
NM_004638.4:c.5301G>A MANE Select NP_004629.3:p.Lys1767=
NM_080686.3:c.5301G>A NP_542417.2:p.Lys1767=