Canonical Allele Identifier: CA8902428

Gene: MC2R

Linked Data

• ClinVar Variation Id: 3263
• ClinVar RCV Id: RCV000003419
• dbSNP Id: rs749254899
• ExAC: 18:13884865 G / GT
• gnomAD v2: 18-13884865-G-GT
• gnomAD v3: 18-13884866-G-GT
• gnomAD v4: 18-13884866-G-GT
• MyVariant Identifiers: chr18:g.13884865_13884866insT (hg19) ; chr18:g.13884866_13884867insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13884866_13884867insT , CM000680.2:g.13884866_13884867insT	GRCh38
NC_000018.9:g.13884865_13884866insT , CM000680.1:g.13884865_13884866insT	GRCh37
NC_000018.8:g.13874865_13874866insT	NCBI36
NG_011819.1:g.35670_35671insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327606.4:c.652_653insA MANE Select	ENSP00000333821.2:p.Ala218AspfsTer?
ENST00000327606.3:c.652_653insA	ENSP00000333821.2:p.Ala218AspfsTer?
NM_000529.2:c.652_653insA MANE Select	NP_000520.1:p.Ala218AspfsTer?
NM_001291911.1:c.652_653insA	NP_001278840.1:p.Ala218AspfsTer?
XM_017025781.1:c.652_653insA	XP_016881270.1:p.Ala218AspfsTer?