Canonical Allele Identifier: CA503248266
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs2045266418
gnomAD v3: 18-13885069-C-G
gnomAD v4: 18-13885069-C-G
MyVariant Identifiers: chr18:g.13885068C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885069C>G , CM000680.2:g.13885069C>G GRCh38
NC_000018.9:g.13885068C>G , CM000680.1:g.13885068C>G GRCh37
NC_000018.8:g.13875068C>G NCBI36
NG_011819.1:g.35468G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.450G>C MANE Select ENSP00000333821.2:p.Val150=
ENST00000327606.3:c.450G>C ENSP00000333821.2:p.Val150=
NM_000529.2:c.450G>C MANE Select NP_000520.1:p.Val150=
NM_001291911.1:c.450G>C NP_001278840.1:p.Val150=
XM_017025781.1:c.450G>C XP_016881270.1:p.Val150=
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