Canonical Allele Identifier: CA136867763

Gene: PRRC2A

Linked Data

• dbSNP Id: rs374300121
• gnomAD v2: 6-31602958-G-T
• gnomAD v4: 6-31635181-G-T
• MyVariant Identifiers: chr6:g.31602958G>T (hg19) ; chr6:g.31635181G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31635181G>T , CM000668.2:g.31635181G>T	GRCh38
NC_000006.11:g.31602958G>T , CM000668.1:g.31602958G>T	GRCh37
NC_000006.10:g.31710937G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376033.3:c.5210G>T MANE Select	ENSP00000365201.2:p.Arg1737Leu
ENST00000376007.8:c.5210G>T	ENSP00000365175.4:p.Arg1737Leu
ENST00000376033.2:c.5210G>T	ENSP00000365201.2:p.Arg1737Leu
ENST00000484787.1:n.621G>T
NM_004638.3:c.5210G>T	NP_004629.3:p.Arg1737Leu
NM_080686.2:c.5210G>T	NP_542417.2:p.Arg1737Leu
XM_011514890.1:c.5210G>T	XP_011513192.1:p.Arg1737Leu
XM_017011274.1:c.5210G>T	XP_016866763.1:p.Arg1737Leu
NM_004638.4:c.5210G>T MANE Select	NP_004629.3:p.Arg1737Leu
NM_080686.3:c.5210G>T	NP_542417.2:p.Arg1737Leu