Canonical Allele Identifier: CA628624565

Gene: MC2R

Linked Data

• dbSNP Id: rs1567896071
• gnomAD v2: 18-13885553-GGACTT-G
• gnomAD v4: 18-13885554-GGACTT-G
• MyVariant Identifiers: chr18:g.13885554_13885558del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13885560_13885564del , CM000680.2:g.13885560_13885564del	GRCh38
NC_000018.9:g.13885559_13885563del , CM000680.1:g.13885559_13885563del	GRCh37
NC_000018.8:g.13875559_13875563del	NCBI36
NG_011819.1:g.34978_34982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327606.4:c.-41_-37del MANE Select	ENSP00000333821.2:n.-41_-37del
ENST00000327606.3:c.-41_-37del	ENSP00000333821.2:n.-41_-37del
ENST00000399821.2:c.-41_-37del	ENSP00000382718.2:n.-41_-37del
NM_000529.2:c.-41_-37del MANE Select	NP_000520.1:n.-41_-37del
NM_001291911.1:c.-41_-37del	NP_001278840.1:n.-41_-37del
XM_017025781.1:c.-41_-37del	XP_016881270.1:n.-41_-37del