Canonical Allele Identifier: CA363330985

Gene: PRRC2A

Linked Data

• gnomAD v4: 6-31622800-G-C
• MyVariant Identifiers: chr6:g.31590577G>C (hg19) ; chr6:g.31622800G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31622800G>C , CM000668.2:g.31622800G>C	GRCh38
NC_000006.11:g.31590577G>C , CM000668.1:g.31590577G>C	GRCh37
NC_000006.10:g.31698556G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706625.1:c.27G>C	ENSP00000516471.1:p.Ser9=
ENST00000376033.3:c.11G>C MANE Select	ENSP00000365201.2:p.Arg4Pro
ENST00000376007.8:c.11G>C	ENSP00000365175.4:p.Arg4Pro
ENST00000376033.2:c.11G>C	ENSP00000365201.2:p.Arg4Pro
ENST00000469577.5:n.136-1461G>C
NM_004638.3:c.11G>C	NP_004629.3:p.Arg4Pro
NM_080686.2:c.11G>C	NP_542417.2:p.Arg4Pro
XM_011514890.1:c.11G>C	XP_011513192.1:p.Arg4Pro
XM_017011274.1:c.11G>C	XP_016866763.1:p.Arg4Pro
NM_004638.4:c.11G>C MANE Select	NP_004629.3:p.Arg4Pro
NM_080686.3:c.11G>C	NP_542417.2:p.Arg4Pro