Canonical Allele Identifier: CA10647194
Gene: MC2R HGNC NCBI

Linked Data

ClinVar Variation Id: 326127
ClinVar RCV Id: RCV000293103
dbSNP Id: rs149107575
gnomAD v2: 18-13882301-G-A
gnomAD v3: 18-13882302-G-A
gnomAD v4: 18-13882302-G-A
MyVariant Identifiers: chr18:g.13882301G>A (hg19) chr18:g.13882301_13882302delinsAA (hg19) chr18:g.13882302G>A (hg38) chr18:g.13882302_13882303delinsAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13882302G>A , CM000680.2:g.13882302G>A GRCh38
NC_000018.9:g.13882301G>A , CM000680.1:g.13882301G>A GRCh37
NC_000018.8:g.13872301G>A NCBI36
NG_011819.1:g.38235C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.*2323C>T MANE Select ENSP00000333821.2:n.*2323C>T
ENST00000327606.3:c.*2323C>T ENSP00000333821.2:n.*2323C>T
NM_000529.2:c.*2323C>T MANE Select NP_000520.1:n.*2323C>T
NM_001291911.1:c.*2323C>T NP_001278840.1:n.*2323C>T
XM_017025781.1:c.*2323C>T XP_016881270.1:n.*2323C>T
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