Canonical Allele Identifier: CA363355432
Gene: PRRC2A HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31632527G>T
GRCh37 chr6:g.31600304G>T
Revel Score:
ENST00000424184 0.070
ENST00000435052 0.070
ENST00000376007 0.070
ENST00000376033 (MANE Select) 0.070
ENST00000376010 0.070
dbSNP:
2736158
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31632527G>T , CM000668.2:g.31632527G>T GRCh38
NC_000006.11:g.31600304G>T , CM000668.1:g.31600304G>T GRCh37
NC_000006.10:g.31708283G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.3854G>T MANE Select ENSP00000365201.2:p.Gly1285Val
ENST00000376007.8:c.3854G>T ENSP00000365175.4:p.Gly1285Val
ENST00000376033.2:c.3854G>T ENSP00000365201.2:p.Gly1285Val
NM_004638.3:c.3854G>T NP_004629.3:p.Gly1285Val
NM_080686.2:c.3854G>T NP_542417.2:p.Gly1285Val
XM_011514890.1:c.3854G>T XP_011513192.1:p.Gly1285Val
XM_017011274.1:c.3854G>T XP_016866763.1:p.Gly1285Val
NM_004638.4:c.3854G>T MANE Select NP_004629.3:p.Gly1285Val
NM_080686.3:c.3854G>T NP_542417.2:p.Gly1285Val
Search 100 bp 5'
Search 100 bp 3'