Canonical Allele Identifier: CA503248471

Gene: MC2R

Linked Data

• dbSNP Id: rs1255384508
• gnomAD v2: 18-13885160-TG-T
• gnomAD v3: 18-13885161-TG-T
• gnomAD v4: 18-13885161-TG-T
• MyVariant Identifiers: chr18:g.13885161del (hg19) ; chr18:g.13885162del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13885162del , CM000680.2:g.13885162del	GRCh38
NC_000018.9:g.13885161del , CM000680.1:g.13885161del	GRCh37
NC_000018.8:g.13875161del	NCBI36
NG_011819.1:g.35375del

Transcript Alleles

HGVS	Amino-acid change
ENST00000327606.4:c.357del MANE Select	ENSP00000333821.2:p.Phe119LeufsTer5
ENST00000327606.3:c.357del	ENSP00000333821.2:p.Phe119LeufsTer5
ENST00000399821.2:c.357del	ENSP00000382718.2:p.Phe119LeufsTer5
NM_000529.2:c.357del MANE Select	NP_000520.1:p.Phe119LeufsTer5
NM_001291911.1:c.357del	NP_001278840.1:p.Phe119LeufsTer5
XM_017025781.1:c.357del	XP_016881270.1:p.Phe119LeufsTer5