Canonical Allele Identifier: CA2641148024

Gene: MC2R

Linked Data

• gnomAD v4: 18-13885313-GATATGGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13885315_13885322del , CM000680.2:g.13885315_13885322del	GRCh38
NC_000018.9:g.13885314_13885321del , CM000680.1:g.13885314_13885321del	GRCh37
NC_000018.8:g.13875314_13875321del	NCBI36
NG_011819.1:g.35216_35223del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327606.4:c.198_205del MANE Select	ENSP00000333821.2:p.Leu66PhefsTer2
ENST00000327606.3:c.198_205del	ENSP00000333821.2:p.Leu66PhefsTer2
ENST00000399821.2:c.198_205del	ENSP00000382718.2:p.Leu66PhefsTer2
NM_000529.2:c.198_205del MANE Select	NP_000520.1:p.Leu66PhefsTer2
NM_001291911.1:c.198_205del	NP_001278840.1:p.Leu66PhefsTer2
XM_017025781.1:c.198_205del	XP_016881270.1:p.Leu66PhefsTer2