Canonical Allele Identifier: CA566355389
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs1413408713
gnomAD v2: 6-31590526-G-T
gnomAD v4: 6-31622749-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31622749G>T , CM000668.2:g.31622749G>T GRCh38
NC_000006.11:g.31590526G>T , CM000668.1:g.31590526G>T GRCh37
NC_000006.10:g.31698505G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.-41G>T MANE Select ENSP00000365201.2:n.-41G>T
ENST00000376007.8:c.-41G>T ENSP00000365175.4:n.-41G>T
ENST00000376033.2:c.-41G>T ENSP00000365201.2:n.-41G>T
ENST00000469577.5:n.136-1512G>T
NM_004638.3:c.-41G>T NP_004629.3:n.-41G>T
NM_080686.2:c.-41G>T NP_542417.2:n.-41G>T
XM_011514890.1:c.-41G>T XP_011513192.1:n.-41G>T
NM_004638.4:c.-41G>T MANE Select NP_004629.3:n.-41G>T
NM_080686.3:c.-41G>T NP_542417.2:n.-41G>T