Canonical Allele Identifier: CA3714912
Gene: PRRC2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2307834
ClinVar RCV Id: RCV004153453
dbSNP Id: rs115229219
ExAC: 6:31590675 G / A
gnomAD v2: 6-31590675-G-A
gnomAD v3: 6-31622898-G-A
gnomAD v4: 6-31622898-G-A
MyVariant Identifiers: chr6:g.31590675G>A (hg19) chr6:g.31622898G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31622898G>A , CM000668.2:g.31622898G>A GRCh38
NC_000006.11:g.31590675G>A , CM000668.1:g.31590675G>A GRCh37
NC_000006.10:g.31698654G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.109G>A MANE Select ENSP00000365201.2:p.Ala37Thr
ENST00000376007.8:c.109G>A ENSP00000365175.4:p.Ala37Thr
ENST00000376033.2:c.109G>A ENSP00000365201.2:p.Ala37Thr
ENST00000469577.5:n.136-1363G>A
NM_004638.3:c.109G>A NP_004629.3:p.Ala37Thr
NM_080686.2:c.109G>A NP_542417.2:p.Ala37Thr
XM_011514890.1:c.109G>A XP_011513192.1:p.Ala37Thr
XM_017011274.1:c.109G>A XP_016866763.1:p.Ala37Thr
NM_004638.4:c.109G>A MANE Select NP_004629.3:p.Ala37Thr
NM_080686.3:c.109G>A NP_542417.2:p.Ala37Thr
Search 100 bp 5'
Search 100 bp 3'