Canonical Allele Identifier: CA503248548
Gene: MC2R HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.13885476T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885477T>C , CM000680.2:g.13885477T>C GRCh38
NC_000018.9:g.13885476T>C , CM000680.1:g.13885476T>C GRCh37
NC_000018.8:g.13875476T>C NCBI36
NG_011819.1:g.35060A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.42A>G MANE Select ENSP00000333821.2:p.Thr14=
ENST00000327606.3:c.42A>G ENSP00000333821.2:p.Thr14=
ENST00000399821.2:c.42A>G ENSP00000382718.2:p.Thr14=
NM_000529.2:c.42A>G MANE Select NP_000520.1:p.Thr14=
NM_001291911.1:c.42A>G NP_001278840.1:p.Thr14=
XM_017025781.1:c.42A>G XP_016881270.1:p.Thr14=
Search 100 bp 5'
Search 100 bp 3'