Canonical Allele Identifier: CA401995380
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs1324379630
gnomAD v2: 18-13885144-G-A
gnomAD v3: 18-13885145-G-A
gnomAD v4: 18-13885145-G-A
MyVariant Identifiers: chr18:g.13885144G>A (hg19) chr18:g.13885145G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885145G>A , CM000680.2:g.13885145G>A GRCh38
NC_000018.9:g.13885144G>A , CM000680.1:g.13885144G>A GRCh37
NC_000018.8:g.13875144G>A NCBI36
NG_011819.1:g.35392C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.374C>T MANE Select ENSP00000333821.2:p.Ala125Val
ENST00000327606.3:c.374C>T ENSP00000333821.2:p.Ala125Val
NM_000529.2:c.374C>T MANE Select NP_000520.1:p.Ala125Val
NM_001291911.1:c.374C>T NP_001278840.1:p.Ala125Val
XM_017025781.1:c.374C>T XP_016881270.1:p.Ala125Val
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