Canonical Allele Identifier: CA3716446

Gene: PRRC2A

Linked Data

• dbSNP Id: rs367903539
• ExAC: 6:31602970 C / A
• gnomAD v2: 6-31602970-C-A
• gnomAD v3: 6-31635193-C-A
• gnomAD v4: 6-31635193-C-A
• MyVariant Identifiers: chr6:g.31602970C>A (hg19) ; chr6:g.31635193C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31635193C>A , CM000668.2:g.31635193C>A	GRCh38
NC_000006.11:g.31602970C>A , CM000668.1:g.31602970C>A	GRCh37
NC_000006.10:g.31710949C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000376033.3:c.5222C>A MANE Select	ENSP00000365201.2:p.Thr1741Lys
ENST00000376007.8:c.5222C>A	ENSP00000365175.4:p.Thr1741Lys
ENST00000376033.2:c.5222C>A	ENSP00000365201.2:p.Thr1741Lys
ENST00000484787.1:n.633C>A
NM_004638.3:c.5222C>A	NP_004629.3:p.Thr1741Lys
NM_080686.2:c.5222C>A	NP_542417.2:p.Thr1741Lys
XM_011514890.1:c.5222C>A	XP_011513192.1:p.Thr1741Lys
XM_017011274.1:c.5222C>A	XP_016866763.1:p.Thr1741Lys
NM_004638.4:c.5222C>A MANE Select	NP_004629.3:p.Thr1741Lys
NM_080686.3:c.5222C>A	NP_542417.2:p.Thr1741Lys