Canonical Allele Identifier: CA8211724

Gene: CRISPLD2

Linked Data

• ClinVar Variation Id: 2646929
• ClinVar RCV Id: RCV003426872 ; RCV003938942
• dbSNP Id: rs149615348
• ExAC: 16:84900645 G / A
• gnomAD v2: 16-84900645-G-A
• gnomAD v3: 16-84867039-G-A
• gnomAD v4: 16-84867039-G-A
• MyVariant Identifiers: chr16:g.84900645G>A (hg19) ; chr16:g.84867039G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84867039G>A , CM000678.2:g.84867039G>A	GRCh38
NC_000016.9:g.84900645G>A , CM000678.1:g.84900645G>A	GRCh37
NC_000016.8:g.83458146G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000262424.10:c.852G>A MANE Select	ENSP00000262424.5:p.Met284Ile
ENST00000262424.9:c.852G>A	ENSP00000262424.5:p.Met284Ile
ENST00000563066.5:c.381G>A	ENSP00000456952.1:p.Met127Ile
ENST00000564567.5:c.852G>A	ENSP00000457655.1:p.Met284Ile
ENST00000567845.5:c.849G>A	ENSP00000457183.1:p.Met283Ile
ENST00000569262.5:n.1043G>A
NM_031476.3:c.852G>A	NP_113664.1:p.Met284Ile
XM_005256190.1:c.852G>A	XP_005256247.1:p.Met284Ile
XM_024450463.1:c.852G>A	XP_024306231.1:p.Met284Ile
NM_031476.4:c.852G>A MANE Select	NP_113664.1:p.Met284Ile