Canonical Allele Identifier: CA401995103
Gene: MC2R HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.13885006T>A (hg19) chr18:g.13885007T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885007T>A , CM000680.2:g.13885007T>A GRCh38
NC_000018.9:g.13885006T>A , CM000680.1:g.13885006T>A GRCh37
NC_000018.8:g.13875006T>A NCBI36
NG_011819.1:g.35530A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.512A>T MANE Select ENSP00000333821.2:p.His171Leu
ENST00000327606.3:c.512A>T ENSP00000333821.2:p.His171Leu
NM_000529.2:c.512A>T MANE Select NP_000520.1:p.His171Leu
NM_001291911.1:c.512A>T NP_001278840.1:p.His171Leu
XM_017025781.1:c.512A>T XP_016881270.1:p.His171Leu
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