Canonical Allele Identifier: CA503248587
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs1158166353
gnomAD v2: 18-13885005-A-G
gnomAD v4: 18-13885006-A-G
MyVariant Identifiers: chr18:g.13885005A>G (hg19) chr18:g.13885006A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885006A>G , CM000680.2:g.13885006A>G GRCh38
NC_000018.9:g.13885005A>G , CM000680.1:g.13885005A>G GRCh37
NC_000018.8:g.13875005A>G NCBI36
NG_011819.1:g.35531T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.513T>C MANE Select ENSP00000333821.2:p.His171=
ENST00000327606.3:c.513T>C ENSP00000333821.2:p.His171=
NM_000529.2:c.513T>C MANE Select NP_000520.1:p.His171=
NM_001291911.1:c.513T>C NP_001278840.1:p.His171=
XM_017025781.1:c.513T>C XP_016881270.1:p.His171=
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