Canonical Allele Identifier: CA3716451

Gene: PRRC2A

Linked Data

• dbSNP Id: rs777118453
• ExAC: 6:31602990 G / A
• gnomAD v2: 6-31602990-G-A
• gnomAD v4: 6-31635213-G-A
• MyVariant Identifiers: chr6:g.31602990G>A (hg19) ; chr6:g.31635213G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31635213G>A , CM000668.2:g.31635213G>A	GRCh38
NC_000006.11:g.31602990G>A , CM000668.1:g.31602990G>A	GRCh37
NC_000006.10:g.31710969G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376033.3:c.5242G>A MANE Select	ENSP00000365201.2:p.Gly1748Ser
ENST00000376007.8:c.5242G>A	ENSP00000365175.4:p.Gly1748Ser
ENST00000376033.2:c.5242G>A	ENSP00000365201.2:p.Gly1748Ser
ENST00000484787.1:n.653G>A
NM_004638.3:c.5242G>A	NP_004629.3:p.Gly1748Ser
NM_080686.2:c.5242G>A	NP_542417.2:p.Gly1748Ser
XM_011514890.1:c.5242G>A	XP_011513192.1:p.Gly1748Ser
XM_017011274.1:c.5242G>A	XP_016866763.1:p.Gly1748Ser
NM_004638.4:c.5242G>A MANE Select	NP_004629.3:p.Gly1748Ser
NM_080686.3:c.5242G>A	NP_542417.2:p.Gly1748Ser