Canonical Allele Identifier: CA3716409
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs774652334
gnomAD v2: 6-31602713-C-T
gnomAD v3: 6-31634936-C-T
gnomAD v4: 6-31634936-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31634936C>T , CM000668.2:g.31634936C>T GRCh38
NC_000006.11:g.31602713C>T , CM000668.1:g.31602713C>T GRCh37
NC_000006.10:g.31710692C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.5119C>T MANE Select ENSP00000365201.2:p.Pro1707Ser
ENST00000376007.8:c.5119C>T ENSP00000365175.4:p.Pro1707Ser
ENST00000376033.2:c.5119C>T ENSP00000365201.2:p.Pro1707Ser
ENST00000484787.1:n.530C>T
NM_004638.3:c.5119C>T NP_004629.3:p.Pro1707Ser
NM_080686.2:c.5119C>T NP_542417.2:p.Pro1707Ser
XM_011514890.1:c.5119C>T XP_011513192.1:p.Pro1707Ser
XM_017011274.1:c.5119C>T XP_016866763.1:p.Pro1707Ser
NM_004638.4:c.5119C>T MANE Select NP_004629.3:p.Pro1707Ser
NM_080686.3:c.5119C>T NP_542417.2:p.Pro1707Ser