Canonical Allele Identifier: CA401994283
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs1381529710
gnomAD v2: 18-13884809-G-A
gnomAD v4: 18-13884810-G-A
MyVariant Identifiers: chr18:g.13884809G>A (hg19) chr18:g.13884810G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884810G>A , CM000680.2:g.13884810G>A GRCh38
NC_000018.9:g.13884809G>A , CM000680.1:g.13884809G>A GRCh37
NC_000018.8:g.13874809G>A NCBI36
NG_011819.1:g.35727C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.709C>T MANE Select ENSP00000333821.2:p.Leu237Phe
ENST00000327606.3:c.709C>T ENSP00000333821.2:p.Leu237Phe
NM_000529.2:c.709C>T MANE Select NP_000520.1:p.Leu237Phe
NM_001291911.1:c.709C>T NP_001278840.1:p.Leu237Phe
XM_017025781.1:c.709C>T XP_016881270.1:p.Leu237Phe
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