Canonical Allele Identifier: CA401994738
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs2045264592
gnomAD v3: 18-13884915-A-G
gnomAD v4: 18-13884915-A-G
MyVariant Identifiers: chr18:g.13884914A>G (hg19) chr18:g.13884915A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884915A>G , CM000680.2:g.13884915A>G GRCh38
NC_000018.9:g.13884914A>G , CM000680.1:g.13884914A>G GRCh37
NC_000018.8:g.13874914A>G NCBI36
NG_011819.1:g.35622T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.604T>C MANE Select ENSP00000333821.2:p.Ser202Pro
ENST00000327606.3:c.604T>C ENSP00000333821.2:p.Ser202Pro
NM_000529.2:c.604T>C MANE Select NP_000520.1:p.Ser202Pro
NM_001291911.1:c.604T>C NP_001278840.1:p.Ser202Pro
XM_017025781.1:c.604T>C XP_016881270.1:p.Ser202Pro
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