Canonical Allele Identifier: CA401993752
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs368604287
MyVariant Identifiers: chr18:g.13884690A>T (hg19) chr18:g.13884691A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884691A>T , CM000680.2:g.13884691A>T GRCh38
NC_000018.9:g.13884690A>T , CM000680.1:g.13884690A>T GRCh37
NC_000018.8:g.13874690A>T NCBI36
NG_011819.1:g.35846T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.828T>A MANE Select ENSP00000333821.2:p.Tyr276Ter
ENST00000327606.3:c.828T>A ENSP00000333821.2:p.Tyr276Ter
NM_000529.2:c.828T>A MANE Select NP_000520.1:p.Tyr276Ter
NM_001291911.1:c.828T>A NP_001278840.1:p.Tyr276Ter
XM_017025781.1:c.828T>A XP_016881270.1:p.Tyr276Ter
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