Canonical Allele Identifier: CA8902499
Gene: MC2R HGNC NCBI

Linked Data

ClinVar Variation Id: 889351
ClinVar RCV Id: RCV001123218
dbSNP Id: rs368669544
ExAC: 18:13885141 G / A
gnomAD v2: 18-13885141-G-A
gnomAD v3: 18-13885142-G-A
gnomAD v4: 18-13885142-G-A
MyVariant Identifiers: chr18:g.13885141G>A (hg19) chr18:g.13885142G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885142G>A , CM000680.2:g.13885142G>A GRCh38
NC_000018.9:g.13885141G>A , CM000680.1:g.13885141G>A GRCh37
NC_000018.8:g.13875141G>A NCBI36
NG_011819.1:g.35395C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.377C>T MANE Select ENSP00000333821.2:p.Ala126Val
ENST00000327606.3:c.377C>T ENSP00000333821.2:p.Ala126Val
NM_000529.2:c.377C>T MANE Select NP_000520.1:p.Ala126Val
NM_001291911.1:c.377C>T NP_001278840.1:p.Ala126Val
XM_017025781.1:c.377C>T XP_016881270.1:p.Ala126Val
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