Canonical Allele Identifier: CA776350804

Gene: MC2R

Linked Data

• dbSNP Id: rs1482065205
• gnomAD v3: 18-13884688-GGCAT-G
• gnomAD v4: 18-13884688-GGCAT-G
• MyVariant Identifiers: chr18:g.13884688_13884691del (hg19) ; chr18:g.13884689_13884692del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13884689_13884692del , CM000680.2:g.13884689_13884692del	GRCh38
NC_000018.9:g.13884688_13884691del , CM000680.1:g.13884688_13884691del	GRCh37
NC_000018.8:g.13874688_13874691del	NCBI36
NG_011819.1:g.35845_35848del

Transcript Alleles

HGVS	Amino-acid change
ENST00000327606.4:c.827_830del MANE Select	ENSP00000333821.2:p.Tyr276SerfsTer14
ENST00000327606.3:c.827_830del	ENSP00000333821.2:p.Tyr276SerfsTer14
NM_000529.2:c.827_830del MANE Select	NP_000520.1:p.Tyr276SerfsTer14
NM_001291911.1:c.827_830del	NP_001278840.1:p.Tyr276SerfsTer14
XM_017025781.1:c.827_830del	XP_016881270.1:p.Tyr276SerfsTer14