Canonical Allele Identifier: CA363330861
Gene: PRRC2A HGNC NCBI

Linked Data

gnomAD v4: 6-31622790-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31622790A>G , CM000668.2:g.31622790A>G GRCh38
NC_000006.11:g.31590567A>G , CM000668.1:g.31590567A>G GRCh37
NC_000006.10:g.31698546A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000706625.1:c.17A>G ENSP00000516471.1:p.Asn6Ser
ENST00000376033.3:c.1A>G MANE Select ENSP00000365201.2:p.Met1Val
ENST00000376007.8:c.1A>G ENSP00000365175.4:p.Met1Val
ENST00000376033.2:c.1A>G ENSP00000365201.2:p.Met1Val
ENST00000469577.5:n.136-1471A>G
NM_004638.3:c.1A>G NP_004629.3:p.Met1Val
NM_080686.2:c.1A>G NP_542417.2:p.Met1Val
XM_011514890.1:c.1A>G XP_011513192.1:p.Met1Val
XM_017011274.1:c.1A>G XP_016866763.1:p.Met1Val
NM_004638.4:c.1A>G MANE Select NP_004629.3:p.Met1Val
NM_080686.3:c.1A>G NP_542417.2:p.Met1Val