Canonical Allele Identifier: CA136852417

Gene: PRRC2A

Linked Data

• dbSNP Id: rs990771552
• gnomAD v4: 6-31622718-G-T
• MyVariant Identifiers: chr6:g.31590495G>T (hg19) ; chr6:g.31622718G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31622718G>T , CM000668.2:g.31622718G>T	GRCh38
NC_000006.11:g.31590495G>T , CM000668.1:g.31590495G>T	GRCh37
NC_000006.10:g.31698474G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376033.3:c.-72G>T MANE Select	ENSP00000365201.2:n.-72G>T
ENST00000376007.8:c.-63-9G>T	ENSP00000365175.4:n.-63-9G>T
ENST00000376033.2:c.-72G>T	ENSP00000365201.2:n.-72G>T
ENST00000469577.5:n.136-1543G>T
NM_004638.3:c.-72G>T	NP_004629.3:n.-72G>T
NM_080686.2:c.-63-9G>T	NP_542417.2:n.-63-9G>T
XM_011514890.1:c.-63-9G>T	XP_011513192.1:n.-63-9G>T
NM_004638.4:c.-72G>T MANE Select	NP_004629.3:n.-72G>T
NM_080686.3:c.-63-9G>T	NP_542417.2:n.-63-9G>T