Canonical Allele Identifier: CA566690408
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs1156864634
gnomAD v2: 6-31602796-C-T
gnomAD v4: 6-31635019-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31635019C>T , CM000668.2:g.31635019C>T GRCh38
NC_000006.11:g.31602796C>T , CM000668.1:g.31602796C>T GRCh37
NC_000006.10:g.31710775C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.5160+42C>T MANE Select ENSP00000365201.2:n.5160+42C>T
ENST00000376007.8:c.5160+42C>T ENSP00000365175.4:n.5160+42C>T
ENST00000376033.2:c.5160+42C>T ENSP00000365201.2:n.5160+42C>T
ENST00000484787.1:n.571+42C>T
NM_004638.3:c.5160+42C>T NP_004629.3:n.5160+42C>T
NM_080686.2:c.5160+42C>T NP_542417.2:n.5160+42C>T
XM_011514890.1:c.5160+42C>T XP_011513192.1:n.5160+42C>T
XM_017011274.1:c.5160+42C>T XP_016866763.1:n.5160+42C>T
NM_004638.4:c.5160+42C>T MANE Select NP_004629.3:n.5160+42C>T
NM_080686.3:c.5160+42C>T NP_542417.2:n.5160+42C>T