Canonical Allele Identifier: CA2580067550

Gene: REL

Linked Data

• ClinVar Variation Id: 2102071
• ClinVar RCV Id: RCV003037591
• gnomAD v4: 2-60901086-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.60901086A>G , CM000664.2:g.60901086A>G	GRCh38
NC_000002.11:g.61128221A>G , CM000664.1:g.61128221A>G	GRCh37
NC_000002.10:g.60981725A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699191.1:c.394+3A>G	ENSP00000514191.1:n.394+3A>G
ENST00000699192.1:c.394+3A>G	ENSP00000514192.1:n.394+3A>G
ENST00000699193.1:c.302+6541A>G	ENSP00000514193.1:n.302+6541A>G
ENST00000699194.1:n.345+3A>G
ENST00000394479.4:c.394+3A>G MANE Select	ENSP00000377989.4:n.394+3A>G
ENST00000295025.12:c.394+3A>G	ENSP00000295025.7:n.394+3A>G
ENST00000394479.3:c.394+3A>G	ENSP00000377989.3:n.394+3A>G
NM_001291746.1:c.394+3A>G	NP_001278675.1:n.394+3A>G
NM_002908.3:c.394+3A>G	NP_002899.1:n.394+3A>G
XM_011533010.1:c.100+3A>G	XP_011531312.1:n.100+3A>G
XM_011533010.3:c.100+3A>G	XP_011531312.1:n.100+3A>G
XM_017004627.2:c.394+3A>G	XP_016860116.1:n.394+3A>G
NM_001291746.2:c.394+3A>G MANE Select	NP_001278675.1:n.394+3A>G
NM_002908.4:c.394+3A>G	NP_002899.1:n.394+3A>G