Canonical Allele Identifier: CA533175159

Gene: REL

Linked Data

• dbSNP Id: rs1194545210
• gnomAD v2: 2-61124757-T-C
• gnomAD v3: 2-60897622-T-C
• gnomAD v4: 2-60897622-T-C
• MyVariant Identifiers: chr2:g.61124757T>C (hg19) ; chr2:g.60897622T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.60897622T>C , CM000664.2:g.60897622T>C	GRCh38
NC_000002.11:g.61124757T>C , CM000664.1:g.61124757T>C	GRCh37
NC_000002.10:g.60978261T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699191.1:c.302+3077T>C	ENSP00000514191.1:n.302+3077T>C
ENST00000699192.1:c.302+3077T>C	ENSP00000514192.1:n.302+3077T>C
ENST00000699193.1:c.302+3077T>C	ENSP00000514193.1:n.302+3077T>C
ENST00000699194.1:n.253+3077T>C
ENST00000394479.4:c.302+3077T>C MANE Select	ENSP00000377989.4:n.302+3077T>C
ENST00000642725.1:c.150-1348T>C	ENSP00000496299.1:n.150-1348T>C
ENST00000295025.12:c.302+3077T>C	ENSP00000295025.7:n.302+3077T>C
ENST00000394479.3:c.302+3077T>C	ENSP00000377989.3:n.302+3077T>C
NM_001291746.1:c.302+3077T>C	NP_001278675.1:n.302+3077T>C
NM_002908.3:c.302+3077T>C	NP_002899.1:n.302+3077T>C
XM_017004627.2:c.302+3077T>C	XP_016860116.1:n.302+3077T>C
NM_001291746.2:c.302+3077T>C MANE Select	NP_001278675.1:n.302+3077T>C
NM_002908.4:c.302+3077T>C	NP_002899.1:n.302+3077T>C