Canonical Allele Identifier: CA8902407
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs188454360
ExAC: 18:13884747 G / C
gnomAD v2: 18-13884747-G-C
gnomAD v3: 18-13884748-G-C
gnomAD v4: 18-13884748-G-C
MyVariant Identifiers: chr18:g.13884747G>C (hg19) chr18:g.13884748G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884748G>C , CM000680.2:g.13884748G>C GRCh38
NC_000018.9:g.13884747G>C , CM000680.1:g.13884747G>C GRCh37
NC_000018.8:g.13874747G>C NCBI36
NG_011819.1:g.35789C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.771C>G MANE Select ENSP00000333821.2:p.Leu257=
ENST00000327606.3:c.771C>G ENSP00000333821.2:p.Leu257=
NM_000529.2:c.771C>G MANE Select NP_000520.1:p.Leu257=
NM_001291911.1:c.771C>G NP_001278840.1:p.Leu257=
XM_017025781.1:c.771C>G XP_016881270.1:p.Leu257=
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