Canonical Allele Identifier: CA3714909
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs773289047
gnomAD v2: 6-31590657-T-G
gnomAD v4: 6-31622880-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31622880T>G , CM000668.2:g.31622880T>G GRCh38
NC_000006.11:g.31590657T>G , CM000668.1:g.31590657T>G GRCh37
NC_000006.10:g.31698636T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.91T>G MANE Select ENSP00000365201.2:p.Leu31Val
ENST00000376007.8:c.91T>G ENSP00000365175.4:p.Leu31Val
ENST00000376033.2:c.91T>G ENSP00000365201.2:p.Leu31Val
ENST00000469577.5:n.136-1381T>G
NM_004638.3:c.91T>G NP_004629.3:p.Leu31Val
NM_080686.2:c.91T>G NP_542417.2:p.Leu31Val
XM_011514890.1:c.91T>G XP_011513192.1:p.Leu31Val
XM_017011274.1:c.91T>G XP_016866763.1:p.Leu31Val
NM_004638.4:c.91T>G MANE Select NP_004629.3:p.Leu31Val
NM_080686.3:c.91T>G NP_542417.2:p.Leu31Val