Canonical Allele Identifier: CA10636501

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 317024
• ClinVar RCV Id: RCV000316892 ; RCV000371512 ; RCV001120006
• dbSNP Id: rs185349250
• gnomAD v2: 15-72110256-A-G
• gnomAD v3: 15-71817915-A-G
• gnomAD v4: 15-71817915-A-G
• MyVariant Identifiers: chr15:g.72110256A>G (hg19) ; chr15:g.71817915A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71817915A>G , CM000677.2:g.71817915A>G	GRCh38
NC_000015.9:g.72110256A>G , CM000677.1:g.72110256A>G	GRCh37
NC_000015.8:g.69897310A>G	NCBI36
NG_009113.2:g.12361A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.*231A>G MANE Select	ENSP00000482504.1:n.*231A>G
ENST00000563709.1:n.356+100A>G
ENST00000617575.4:c.*231A>G	ENSP00000482504.1:n.*231A>G
ENST00000621736.4:c.*231A>G	ENSP00000479254.1:n.*231A>G
NM_014249.3:c.*231A>G	NP_055064.1:n.*231A>G
XM_011521146.1:c.*231A>G	XP_011519448.1:n.*231A>G
NM_014249.4:c.*231A>G MANE Select	NP_055064.1:n.*231A>G