Canonical Allele Identifier: CA136867582
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs564884246
gnomAD v3: 6-31635052-C-T
gnomAD v4: 6-31635052-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31635052C>T , CM000668.2:g.31635052C>T GRCh38
NC_000006.11:g.31602829C>T , CM000668.1:g.31602829C>T GRCh37
NC_000006.10:g.31710808C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.5160+75C>T MANE Select ENSP00000365201.2:n.5160+75C>T
ENST00000376007.8:c.5160+75C>T ENSP00000365175.4:n.5160+75C>T
ENST00000376033.2:c.5160+75C>T ENSP00000365201.2:n.5160+75C>T
ENST00000484787.1:n.571+75C>T
NM_004638.3:c.5160+75C>T NP_004629.3:n.5160+75C>T
NM_080686.2:c.5160+75C>T NP_542417.2:n.5160+75C>T
XM_011514890.1:c.5160+75C>T XP_011513192.1:n.5160+75C>T
XM_017011274.1:c.5160+75C>T XP_016866763.1:n.5160+75C>T
NM_004638.4:c.5160+75C>T MANE Select NP_004629.3:n.5160+75C>T
NM_080686.3:c.5160+75C>T NP_542417.2:n.5160+75C>T