Canonical Allele Identifier: CA3714927

Gene: PRRC2A

Linked Data

• dbSNP Id: rs773376209
• ExAC: 6:31590841 G / A
• gnomAD v2: 6-31590841-G-A
• gnomAD v4: 6-31623064-G-A
• MyVariant Identifiers: chr6:g.31590841G>A (hg19) ; chr6:g.31623064G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31623064G>A , CM000668.2:g.31623064G>A	GRCh38
NC_000006.11:g.31590841G>A , CM000668.1:g.31590841G>A	GRCh37
NC_000006.10:g.31698820G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000376033.3:c.112+163G>A MANE Select	ENSP00000365201.2:n.112+163G>A
ENST00000376007.8:c.112+163G>A	ENSP00000365175.4:n.112+163G>A
ENST00000376033.2:c.112+163G>A	ENSP00000365201.2:n.112+163G>A
ENST00000469577.5:n.136-1197G>A
NM_004638.3:c.112+163G>A	NP_004629.3:n.112+163G>A
NM_080686.2:c.112+163G>A	NP_542417.2:n.112+163G>A
XM_011514890.1:c.112+163G>A	XP_011513192.1:n.112+163G>A
XM_017011274.1:c.112+163G>A	XP_016866763.1:n.112+163G>A
NM_004638.4:c.112+163G>A MANE Select	NP_004629.3:n.112+163G>A
NM_080686.3:c.112+163G>A	NP_542417.2:n.112+163G>A