Canonical Allele Identifier: CA3714900

Gene: PRRC2A

Linked Data

• dbSNP Id: rs780640642
• ExAC: 6:31590620 C / T
• gnomAD v2: 6-31590620-C-T
• gnomAD v4: 6-31622843-C-T
• MyVariant Identifiers: chr6:g.31590620C>T (hg19) ; chr6:g.31622843C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31622843C>T , CM000668.2:g.31622843C>T	GRCh38
NC_000006.11:g.31590620C>T , CM000668.1:g.31590620C>T	GRCh37
NC_000006.10:g.31698599C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706625.1:c.70C>T	ENSP00000516471.1:p.Leu24Phe
ENST00000376033.3:c.54C>T MANE Select	ENSP00000365201.2:p.Ser18=
ENST00000376007.8:c.54C>T	ENSP00000365175.4:p.Ser18=
ENST00000376033.2:c.54C>T	ENSP00000365201.2:p.Ser18=
ENST00000469577.5:n.136-1418C>T
NM_004638.3:c.54C>T	NP_004629.3:p.Ser18=
NM_080686.2:c.54C>T	NP_542417.2:p.Ser18=
XM_011514890.1:c.54C>T	XP_011513192.1:p.Ser18=
XM_017011274.1:c.54C>T	XP_016866763.1:p.Ser18=
NM_004638.4:c.54C>T MANE Select	NP_004629.3:p.Ser18=
NM_080686.3:c.54C>T	NP_542417.2:p.Ser18=