Canonical Allele Identifier: CA363364841

Gene: PRRC2A

Linked Data

• dbSNP Id: rs1334118326
• gnomAD v2: 6-31603021-C-T
• gnomAD v4: 6-31635244-C-T
• MyVariant Identifiers: chr6:g.31603021C>T (hg19) ; chr6:g.31635244C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31635244C>T , CM000668.2:g.31635244C>T	GRCh38
NC_000006.11:g.31603021C>T , CM000668.1:g.31603021C>T	GRCh37
NC_000006.10:g.31711000C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376033.3:c.5273C>T MANE Select	ENSP00000365201.2:p.Pro1758Leu
ENST00000376007.8:c.5273C>T	ENSP00000365175.4:p.Pro1758Leu
ENST00000376033.2:c.5273C>T	ENSP00000365201.2:p.Pro1758Leu
ENST00000469501.1:n.3C>T
ENST00000484787.1:n.684C>T
NM_004638.3:c.5273C>T	NP_004629.3:p.Pro1758Leu
NM_080686.2:c.5273C>T	NP_542417.2:p.Pro1758Leu
XM_011514890.1:c.5273C>T	XP_011513192.1:p.Pro1758Leu
XM_017011274.1:c.5273C>T	XP_016866763.1:p.Pro1758Leu
NM_004638.4:c.5273C>T MANE Select	NP_004629.3:p.Pro1758Leu
NM_080686.3:c.5273C>T	NP_542417.2:p.Pro1758Leu