Canonical Allele Identifier: CA2285919610

Gene: MC2R

Linked Data

• dbSNP Id: rs2045271200
• gnomAD v4: 18-13885547-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13885547G>A , CM000680.2:g.13885547G>A	GRCh38
NC_000018.9:g.13885546G>A , CM000680.1:g.13885546G>A	GRCh37
NC_000018.8:g.13875546G>A	NCBI36
NG_011819.1:g.34990C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327606.4:c.-29C>T MANE Select	ENSP00000333821.2:n.-29C>T
ENST00000327606.3:c.-29C>T	ENSP00000333821.2:n.-29C>T
ENST00000399821.2:c.-29C>T	ENSP00000382718.2:n.-29C>T
NM_000529.2:c.-29C>T MANE Select	NP_000520.1:n.-29C>T
NM_001291911.1:c.-29C>T	NP_001278840.1:n.-29C>T
XM_017025781.1:c.-29C>T	XP_016881270.1:n.-29C>T