Canonical Allele Identifier: CA449662127
Gene: PRRC2A HGNC NCBI
SNORA38 HGNC NCBI

Linked Data

gnomAD v4: 6-31623125-A-C
MyVariant Identifiers: chr6:g.31590902A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31623125A>C , CM000668.2:g.31623125A>C GRCh38
NC_000006.11:g.31590902A>C , CM000668.1:g.31590902A>C GRCh37
NC_000006.10:g.31698881A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000376033.3:c.112+224A>C (PRRC2A) MANE Select ENSP00000365201.2:n.112+224A>C
ENST00000376007.8:c.112+224A>C (PRRC2A) ENSP00000365175.4:n.112+224A>C
ENST00000376033.2:c.112+224A>C (PRRC2A) ENSP00000365201.2:n.112+224A>C
ENST00000469577.5:n.136-1136A>C (PRRC2A)
NM_004638.3:c.112+224A>C (PRRC2A) NP_004629.3:n.112+224A>C
NM_080686.2:c.112+224A>C (PRRC2A) NP_542417.2:n.112+224A>C
NR_002971.1:n.47A>C (SNORA38)
XM_011514890.1:c.112+224A>C (PRRC2A) XP_011513192.1:n.112+224A>C
XM_017011274.1:c.112+224A>C (PRRC2A) XP_016866763.1:n.112+224A>C
NM_004638.4:c.112+224A>C (PRRC2A) MANE Select NP_004629.3:n.112+224A>C
NM_080686.3:c.112+224A>C (PRRC2A) NP_542417.2:n.112+224A>C