Canonical Allele Identifier: CA449661962

Gene: PRRC2A

Linked Data

• dbSNP Id: rs1475059161
• gnomAD v2: 6-31590605-T-C
• gnomAD v4: 6-31622828-T-C
• MyVariant Identifiers: chr6:g.31590605T>C (hg19) ; chr6:g.31622828T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31622828T>C , CM000668.2:g.31622828T>C	GRCh38
NC_000006.11:g.31590605T>C , CM000668.1:g.31590605T>C	GRCh37
NC_000006.10:g.31698584T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706625.1:c.55T>C	ENSP00000516471.1:p.Trp19Arg
ENST00000376033.3:c.39T>C MANE Select	ENSP00000365201.2:p.Asp13=
ENST00000376007.8:c.39T>C	ENSP00000365175.4:p.Asp13=
ENST00000376033.2:c.39T>C	ENSP00000365201.2:p.Asp13=
ENST00000469577.5:n.136-1433T>C
NM_004638.3:c.39T>C	NP_004629.3:p.Asp13=
NM_080686.2:c.39T>C	NP_542417.2:p.Asp13=
XM_011514890.1:c.39T>C	XP_011513192.1:p.Asp13=
XM_017011274.1:c.39T>C	XP_016866763.1:p.Asp13=
NM_004638.4:c.39T>C MANE Select	NP_004629.3:p.Asp13=
NM_080686.3:c.39T>C	NP_542417.2:p.Asp13=