Canonical Allele Identifier: CA628624552

Gene: MC2R

Linked Data

• dbSNP Id: rs1442380034
• gnomAD v2: 18-13885239-C-CTTG
• MyVariant Identifiers: chr18:g.13885239_13885240insTTG (hg19) ; chr18:g.13885240_13885241insTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13885241_13885243dup , CM000680.2:g.13885241_13885243dup	GRCh38
NC_000018.9:g.13885240_13885242dup , CM000680.1:g.13885240_13885242dup	GRCh37
NC_000018.8:g.13875240_13875242dup	NCBI36
NG_011819.1:g.35294_35296dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327606.4:c.276_278dup MANE Select	ENSP00000333821.2:p.Leu92_Lys93insAsn
ENST00000327606.3:c.276_278dup	ENSP00000333821.2:p.Leu92_Lys93insAsn
ENST00000399821.2:c.276_278dup	ENSP00000382718.2:p.Leu92_Lys93insAsn
NM_000529.2:c.276_278dup MANE Select	NP_000520.1:p.Leu92_Lys93insAsn
NM_001291911.1:c.276_278dup	NP_001278840.1:p.Leu92_Lys93insAsn
XM_017025781.1:c.276_278dup	XP_016881270.1:p.Leu92_Lys93insAsn