Canonical Allele Identifier: CA8902570
Gene: MC2R HGNC NCBI

Linked Data

ClinVar Variation Id: 326198
ClinVar RCV Id: RCV000317136 RCV003422293
dbSNP Id: rs28926177
ExAC: 18:13885561 C / G
gnomAD v2: 18-13885561-C-G
gnomAD v3: 18-13885562-C-G
gnomAD v4: 18-13885562-C-G
MyVariant Identifiers: chr18:g.13885561C>G (hg19) chr18:g.13885562C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885562C>G , CM000680.2:g.13885562C>G GRCh38
NC_000018.9:g.13885561C>G , CM000680.1:g.13885561C>G GRCh37
NC_000018.8:g.13875561C>G NCBI36
NG_011819.1:g.34975G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.-44G>C MANE Select ENSP00000333821.2:n.-44G>C
ENST00000327606.3:c.-44G>C ENSP00000333821.2:n.-44G>C
ENST00000399821.2:c.-44G>C ENSP00000382718.2:n.-44G>C
NM_000529.2:c.-44G>C MANE Select NP_000520.1:n.-44G>C
NM_001291911.1:c.-44G>C NP_001278840.1:n.-44G>C
XM_017025781.1:c.-44G>C XP_016881270.1:n.-44G>C
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