Canonical Allele Identifier: CA3714940

Gene: PRRC2A SNORA38

Linked Data

• dbSNP Id: rs780282278
• ExAC: 6:31590899 G / A
• gnomAD v2: 6-31590899-G-A
• gnomAD v3: 6-31623122-G-A
• gnomAD v4: 6-31623122-G-A
• MyVariant Identifiers: chr6:g.31590899G>A (hg19) ; chr6:g.31623122G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31623122G>A , CM000668.2:g.31623122G>A	GRCh38
NC_000006.11:g.31590899G>A , CM000668.1:g.31590899G>A	GRCh37
NC_000006.10:g.31698878G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000376033.3:c.112+221G>A (PRRC2A) MANE Select	ENSP00000365201.2:n.112+221G>A
ENST00000376007.8:c.112+221G>A (PRRC2A)	ENSP00000365175.4:n.112+221G>A
ENST00000376033.2:c.112+221G>A (PRRC2A)	ENSP00000365201.2:n.112+221G>A
ENST00000469577.5:n.136-1139G>A (PRRC2A)
NM_004638.3:c.112+221G>A (PRRC2A)	NP_004629.3:n.112+221G>A
NM_080686.2:c.112+221G>A (PRRC2A)	NP_542417.2:n.112+221G>A
NR_002971.1:n.44G>A (SNORA38)
XM_011514890.1:c.112+221G>A (PRRC2A)	XP_011513192.1:n.112+221G>A
XM_017011274.1:c.112+221G>A (PRRC2A)	XP_016866763.1:n.112+221G>A
NM_004638.4:c.112+221G>A (PRRC2A) MANE Select	NP_004629.3:n.112+221G>A
NM_080686.3:c.112+221G>A (PRRC2A)	NP_542417.2:n.112+221G>A