Canonical Allele Identifier: CA3714901

Gene: PRRC2A

Linked Data

• dbSNP Id: rs745392121
• ExAC: 6:31590623 G / A
• gnomAD v4: 6-31622846-G-A
• MyVariant Identifiers: chr6:g.31590623G>A (hg19) ; chr6:g.31622846G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31622846G>A , CM000668.2:g.31622846G>A	GRCh38
NC_000006.11:g.31590623G>A , CM000668.1:g.31590623G>A	GRCh37
NC_000006.10:g.31698602G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706625.1:c.73G>A	ENSP00000516471.1:p.Ala25Thr
ENST00000376033.3:c.57G>A MANE Select	ENSP00000365201.2:p.Ser19=
ENST00000376007.8:c.57G>A	ENSP00000365175.4:p.Ser19=
ENST00000376033.2:c.57G>A	ENSP00000365201.2:p.Ser19=
ENST00000469577.5:n.136-1415G>A
NM_004638.3:c.57G>A	NP_004629.3:p.Ser19=
NM_080686.2:c.57G>A	NP_542417.2:p.Ser19=
XM_011514890.1:c.57G>A	XP_011513192.1:p.Ser19=
XM_017011274.1:c.57G>A	XP_016866763.1:p.Ser19=
NM_004638.4:c.57G>A MANE Select	NP_004629.3:p.Ser19=
NM_080686.3:c.57G>A	NP_542417.2:p.Ser19=