Canonical Allele Identifier: CA401994205
Gene: MC2R HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.13884791T>C (hg19) chr18:g.13884792T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884792T>C , CM000680.2:g.13884792T>C GRCh38
NC_000018.9:g.13884791T>C , CM000680.1:g.13884791T>C GRCh37
NC_000018.8:g.13874791T>C NCBI36
NG_011819.1:g.35745A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.727A>G MANE Select ENSP00000333821.2:p.Thr243Ala
ENST00000327606.3:c.727A>G ENSP00000333821.2:p.Thr243Ala
NM_000529.2:c.727A>G MANE Select NP_000520.1:p.Thr243Ala
NM_001291911.1:c.727A>G NP_001278840.1:p.Thr243Ala
XM_017025781.1:c.727A>G XP_016881270.1:p.Thr243Ala
Search 100 bp 5'
Search 100 bp 3'