Canonical Allele Identifier: CA401995337
Gene: MC2R HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.13885123A>G (hg19) chr18:g.13885124A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885124A>G , CM000680.2:g.13885124A>G GRCh38
NC_000018.9:g.13885123A>G , CM000680.1:g.13885123A>G GRCh37
NC_000018.8:g.13875123A>G NCBI36
NG_011819.1:g.35413T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.395T>C MANE Select ENSP00000333821.2:p.Ile132Thr
ENST00000327606.3:c.395T>C ENSP00000333821.2:p.Ile132Thr
NM_000529.2:c.395T>C MANE Select NP_000520.1:p.Ile132Thr
NM_001291911.1:c.395T>C NP_001278840.1:p.Ile132Thr
XM_017025781.1:c.395T>C XP_016881270.1:p.Ile132Thr
Search 100 bp 5'
Search 100 bp 3'