Canonical Allele Identifier: CA363364530

Gene: PRRC2A

Linked Data

• dbSNP Id: rs1183258381
• gnomAD v2: 6-31602919-G-A
• gnomAD v4: 6-31635142-G-A
• MyVariant Identifiers: chr6:g.31602919G>A (hg19) ; chr6:g.31635142G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31635142G>A , CM000668.2:g.31635142G>A	GRCh38
NC_000006.11:g.31602919G>A , CM000668.1:g.31602919G>A	GRCh37
NC_000006.10:g.31710898G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376033.3:c.5171G>A MANE Select	ENSP00000365201.2:p.Arg1724Gln
ENST00000376007.8:c.5171G>A	ENSP00000365175.4:p.Arg1724Gln
ENST00000376033.2:c.5171G>A	ENSP00000365201.2:p.Arg1724Gln
ENST00000484787.1:n.582G>A
NM_004638.3:c.5171G>A	NP_004629.3:p.Arg1724Gln
NM_080686.2:c.5171G>A	NP_542417.2:p.Arg1724Gln
XM_011514890.1:c.5171G>A	XP_011513192.1:p.Arg1724Gln
XM_017011274.1:c.5171G>A	XP_016866763.1:p.Arg1724Gln
NM_004638.4:c.5171G>A MANE Select	NP_004629.3:p.Arg1724Gln
NM_080686.3:c.5171G>A	NP_542417.2:p.Arg1724Gln