Canonical Allele Identifier: CA566355392
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs1163357858
gnomAD v2: 6-31590529-C-T
gnomAD v3: 6-31622752-C-T
gnomAD v4: 6-31622752-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31622752C>T , CM000668.2:g.31622752C>T GRCh38
NC_000006.11:g.31590529C>T , CM000668.1:g.31590529C>T GRCh37
NC_000006.10:g.31698508C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.-38C>T MANE Select ENSP00000365201.2:n.-38C>T
ENST00000376007.8:c.-38C>T ENSP00000365175.4:n.-38C>T
ENST00000376033.2:c.-38C>T ENSP00000365201.2:n.-38C>T
ENST00000469577.5:n.136-1509C>T
NM_004638.3:c.-38C>T NP_004629.3:n.-38C>T
NM_080686.2:c.-38C>T NP_542417.2:n.-38C>T
XM_011514890.1:c.-38C>T XP_011513192.1:n.-38C>T
NM_004638.4:c.-38C>T MANE Select NP_004629.3:n.-38C>T
NM_080686.3:c.-38C>T NP_542417.2:n.-38C>T