Canonical Allele Identifier: CA503248121
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs2045263146
gnomAD v4: 18-13884802-G-A
MyVariant Identifiers: chr18:g.13884801G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884802G>A , CM000680.2:g.13884802G>A GRCh38
NC_000018.9:g.13884801G>A , CM000680.1:g.13884801G>A GRCh37
NC_000018.8:g.13874801G>A NCBI36
NG_011819.1:g.35735C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.717C>T MANE Select ENSP00000333821.2:p.Val239=
ENST00000327606.3:c.717C>T ENSP00000333821.2:p.Val239=
NM_000529.2:c.717C>T MANE Select NP_000520.1:p.Val239=
NM_001291911.1:c.717C>T NP_001278840.1:p.Val239=
XM_017025781.1:c.717C>T XP_016881270.1:p.Val239=
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