Canonical Allele Identifier: CA449796722
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs1328608803
gnomAD v2: 6-31602655-T-C
gnomAD v3: 6-31634878-T-C
gnomAD v4: 6-31634878-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31634878T>C , CM000668.2:g.31634878T>C GRCh38
NC_000006.11:g.31602655T>C , CM000668.1:g.31602655T>C GRCh37
NC_000006.10:g.31710634T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.5061T>C MANE Select ENSP00000365201.2:p.Pro1687=
ENST00000376007.8:c.5061T>C ENSP00000365175.4:p.Pro1687=
ENST00000376033.2:c.5061T>C ENSP00000365201.2:p.Pro1687=
ENST00000484787.1:n.472T>C
NM_004638.3:c.5061T>C NP_004629.3:p.Pro1687=
NM_080686.2:c.5061T>C NP_542417.2:p.Pro1687=
XM_011514890.1:c.5061T>C XP_011513192.1:p.Pro1687=
XM_017011274.1:c.5061T>C XP_016866763.1:p.Pro1687=
NM_004638.4:c.5061T>C MANE Select NP_004629.3:p.Pro1687=
NM_080686.3:c.5061T>C NP_542417.2:p.Pro1687=