Canonical Allele Identifier: CA503248426

Gene: MC2R

Linked Data

• gnomAD v4: 18-13885144-A-C
• MyVariant Identifiers: chr18:g.13885143A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13885144A>C , CM000680.2:g.13885144A>C	GRCh38
NC_000018.9:g.13885143A>C , CM000680.1:g.13885143A>C	GRCh37
NC_000018.8:g.13875143A>C	NCBI36
NG_011819.1:g.35393T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000327606.4:c.375T>G MANE Select	ENSP00000333821.2:p.Ala125=
ENST00000327606.3:c.375T>G	ENSP00000333821.2:p.Ala125=
NM_000529.2:c.375T>G MANE Select	NP_000520.1:p.Ala125=
NM_001291911.1:c.375T>G	NP_001278840.1:p.Ala125=
XM_017025781.1:c.375T>G	XP_016881270.1:p.Ala125=