Canonical Allele Identifier: CA116116
Gene: MC2R HGNC NCBI

Linked Data

ClinVar Variation Id: 3258
ClinVar RCV Id: RCV000003414 RCV000583288 RCV002512707
dbSNP Id: rs104894658
ExAC: 18:13885297 C / A
gnomAD v2: 18-13885297-C-A
gnomAD v3: 18-13885298-C-A
gnomAD v4: 18-13885298-C-A
MyVariant Identifiers: chr18:g.13885297C>A (hg19) chr18:g.13885298C>A (hg38)
PubMed: PMID:8094489
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885298C>A , CM000680.2:g.13885298C>A GRCh38
NC_000018.9:g.13885297C>A , CM000680.1:g.13885297C>A GRCh37
NC_000018.8:g.13875297C>A NCBI36
NG_011819.1:g.35239G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.221G>T MANE Select ENSP00000333821.2:p.Ser74Ile
ENST00000327606.3:c.221G>T ENSP00000333821.2:p.Ser74Ile
ENST00000399821.2:c.221G>T ENSP00000382718.2:p.Ser74Ile
NM_000529.2:c.221G>T MANE Select NP_000520.1:p.Ser74Ile
NM_001291911.1:c.221G>T NP_001278840.1:p.Ser74Ile
XM_017025781.1:c.221G>T XP_016881270.1:p.Ser74Ile
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