Canonical Allele Identifier: CA2641150690

Gene: MC2R

Linked Data

• gnomAD v4: 18-13884502-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13884502T>A , CM000680.2:g.13884502T>A	GRCh38
NC_000018.9:g.13884501T>A , CM000680.1:g.13884501T>A	GRCh37
NC_000018.8:g.13874501T>A	NCBI36
NG_011819.1:g.36035A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327606.4:c.*123A>T MANE Select	ENSP00000333821.2:n.*123A>T
ENST00000327606.3:c.*123A>T	ENSP00000333821.2:n.*123A>T
NM_000529.2:c.*123A>T MANE Select	NP_000520.1:n.*123A>T
NM_001291911.1:c.*123A>T	NP_001278840.1:n.*123A>T
XM_017025781.1:c.*123A>T	XP_016881270.1:n.*123A>T