Canonical Allele Identifier: CA2838517925

Gene: MC2R

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13884673dup , CM000680.2:g.13884673dup	GRCh38
NC_000018.9:g.13884672dup , CM000680.1:g.13884672dup	GRCh37
NC_000018.8:g.13874672dup	NCBI36
NG_011819.1:g.35864dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327606.4:c.846dup MANE Select	ENSP00000333821.2:p.Leu283AlafsTer?
ENST00000327606.3:c.846dup	ENSP00000333821.2:p.Leu283AlafsTer?
NM_000529.2:c.846dup MANE Select	NP_000520.1:p.Leu283AlafsTer?
NM_001291911.1:c.846dup	NP_001278840.1:p.Leu283AlafsTer?
XM_017025781.1:c.846dup	XP_016881270.1:p.Leu283AlafsTer?