Canonical Allele Identifier: CA401995470

Gene: MC2R

Linked Data

• MyVariant Identifiers: chr18:g.13885189A>C (hg19) ; chr18:g.13885190A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13885190A>C , CM000680.2:g.13885190A>C	GRCh38
NC_000018.9:g.13885189A>C , CM000680.1:g.13885189A>C	GRCh37
NC_000018.8:g.13875189A>C	NCBI36
NG_011819.1:g.35347T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327606.4:c.329T>G MANE Select	ENSP00000333821.2:p.Phe110Cys
ENST00000327606.3:c.329T>G	ENSP00000333821.2:p.Phe110Cys
ENST00000399821.2:c.329T>G	ENSP00000382718.2:p.Phe110Cys
NM_000529.2:c.329T>G MANE Select	NP_000520.1:p.Phe110Cys
NM_001291911.1:c.329T>G	NP_001278840.1:p.Phe110Cys
XM_017025781.1:c.329T>G	XP_016881270.1:p.Phe110Cys