Canonical Allele Identifier: CA401995433
Gene: MC2R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885170A>T , CM000680.2:g.13885170A>T GRCh38
NC_000018.9:g.13885169A>T , CM000680.1:g.13885169A>T GRCh37
NC_000018.8:g.13875169A>T NCBI36
NG_011819.1:g.35367T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.349T>A MANE Select ENSP00000333821.2:p.Ser117Thr
ENST00000327606.3:c.349T>A ENSP00000333821.2:p.Ser117Thr
ENST00000399821.2:c.349T>A ENSP00000382718.2:p.Ser117Thr
NM_000529.2:c.349T>A MANE Select NP_000520.1:p.Ser117Thr
NM_001291911.1:c.349T>A NP_001278840.1:p.Ser117Thr
XM_017025781.1:c.349T>A XP_016881270.1:p.Ser117Thr