Canonical Allele Identifier: CA296828410
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs35163471
gnomAD v2: 18-13884506-C-A
gnomAD v3: 18-13884507-C-A
gnomAD v4: 18-13884507-C-A
MyVariant Identifiers: chr18:g.13884506C>A (hg19) chr18:g.13884507C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884507C>A , CM000680.2:g.13884507C>A GRCh38
NC_000018.9:g.13884506C>A , CM000680.1:g.13884506C>A GRCh37
NC_000018.8:g.13874506C>A NCBI36
NG_011819.1:g.36030G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.*118G>T MANE Select ENSP00000333821.2:n.*118G>T
ENST00000327606.3:c.*118G>T ENSP00000333821.2:n.*118G>T
NM_000529.2:c.*118G>T MANE Select NP_000520.1:n.*118G>T
NM_001291911.1:c.*118G>T NP_001278840.1:n.*118G>T
XM_017025781.1:c.*118G>T XP_016881270.1:n.*118G>T
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