Canonical Allele Identifier: CA2641148017

Gene: MC2R

Linked Data

• gnomAD v4: 18-13885043-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13885044dup , CM000680.2:g.13885044dup	GRCh38
NC_000018.9:g.13885043dup , CM000680.1:g.13885043dup	GRCh37
NC_000018.8:g.13875043dup	NCBI36
NG_011819.1:g.35493dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000327606.4:c.475dup MANE Select	ENSP00000333821.2:p.Thr159AsnfsTer?
ENST00000327606.3:c.475dup	ENSP00000333821.2:p.Thr159AsnfsTer?
NM_000529.2:c.475dup MANE Select	NP_000520.1:p.Thr159AsnfsTer?
NM_001291911.1:c.475dup	NP_001278840.1:p.Thr159AsnfsTer?
XM_017025781.1:c.475dup	XP_016881270.1:p.Thr159AsnfsTer?