Canonical Allele Identifier: CA363331664

Gene: PRRC2A

Linked Data

• gnomAD v4: 6-31622845-C-T
• MyVariant Identifiers: chr6:g.31590622C>T (hg19) ; chr6:g.31622845C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31622845C>T , CM000668.2:g.31622845C>T	GRCh38
NC_000006.11:g.31590622C>T , CM000668.1:g.31590622C>T	GRCh37
NC_000006.10:g.31698601C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706625.1:c.72C>T	ENSP00000516471.1:p.Leu24=
ENST00000376033.3:c.56C>T MANE Select	ENSP00000365201.2:p.Ser19Leu
ENST00000376007.8:c.56C>T	ENSP00000365175.4:p.Ser19Leu
ENST00000376033.2:c.56C>T	ENSP00000365201.2:p.Ser19Leu
ENST00000469577.5:n.136-1416C>T
NM_004638.3:c.56C>T	NP_004629.3:p.Ser19Leu
NM_080686.2:c.56C>T	NP_542417.2:p.Ser19Leu
XM_011514890.1:c.56C>T	XP_011513192.1:p.Ser19Leu
XM_017011274.1:c.56C>T	XP_016866763.1:p.Ser19Leu
NM_004638.4:c.56C>T MANE Select	NP_004629.3:p.Ser19Leu
NM_080686.3:c.56C>T	NP_542417.2:p.Ser19Leu