Canonical Allele Identifier: CA3714941

Gene: PRRC2A SNORA38

Linked Data

• dbSNP Id: rs200211950
• ExAC: 6:31590908 G / C
• gnomAD v2: 6-31590908-G-C
• gnomAD v3: 6-31623131-G-C
• gnomAD v4: 6-31623131-G-C
• MyVariant Identifiers: chr6:g.31590908G>C (hg19) ; chr6:g.31623131G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31623131G>C , CM000668.2:g.31623131G>C	GRCh38
NC_000006.11:g.31590908G>C , CM000668.1:g.31590908G>C	GRCh37
NC_000006.10:g.31698887G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000376033.3:c.112+230G>C (PRRC2A) MANE Select	ENSP00000365201.2:n.112+230G>C
ENST00000376007.8:c.112+230G>C (PRRC2A)	ENSP00000365175.4:n.112+230G>C
ENST00000376033.2:c.112+230G>C (PRRC2A)	ENSP00000365201.2:n.112+230G>C
ENST00000469577.5:n.136-1130G>C (PRRC2A)
NM_004638.3:c.112+230G>C (PRRC2A)	NP_004629.3:n.112+230G>C
NM_080686.2:c.112+230G>C (PRRC2A)	NP_542417.2:n.112+230G>C
NR_002971.1:n.53G>C (SNORA38)
XM_011514890.1:c.112+230G>C (PRRC2A)	XP_011513192.1:n.112+230G>C
XM_017011274.1:c.112+230G>C (PRRC2A)	XP_016866763.1:n.112+230G>C
NM_004638.4:c.112+230G>C (PRRC2A) MANE Select	NP_004629.3:n.112+230G>C
NM_080686.3:c.112+230G>C (PRRC2A)	NP_542417.2:n.112+230G>C