Canonical Allele Identifier: CA531358437

Gene: POMC

Linked Data

• dbSNP Id: rs1295022040
• gnomAD v2: 2-25384485-C-CT
• gnomAD v4: 2-25161616-C-CT
• MyVariant Identifiers: chr2:g.25384485_25384486insT (hg19) ; chr2:g.25161616_25161617insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161616_25161617insT , CM000664.2:g.25161616_25161617insT	GRCh38
NC_000002.11:g.25384485_25384486insT , CM000664.1:g.25384485_25384486insT	GRCh37
NC_000002.10:g.25237989_25237990insT	NCBI36
NG_008997.1:g.12074_12075insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.268_269insA MANE Select	ENSP00000379170.2:p.Arg90GlnfsTer29
ENST00000264708.7:c.268_269insA	ENSP00000264708.3:p.Arg90GlnfsTer29
ENST00000380794.5:c.268_269insA	ENSP00000370171.1:p.Arg90GlnfsTer29
ENST00000395826.6:c.268_269insA	ENSP00000379170.2:p.Arg90GlnfsTer29
ENST00000405623.5:c.268_269insA	ENSP00000384092.1:p.Arg90GlnfsTer29
ENST00000449220.1:c.268_269insA	ENSP00000387993.1:p.Arg90GlnfsTer29
NM_000939.2:c.268_269insA	NP_000930.1:p.Arg90GlnfsTer29
NM_001035256.1:c.268_269insA	NP_001030333.1:p.Arg90GlnfsTer29
XM_011532917.1:c.268_269insA	XP_011531219.1:p.Arg90GlnfsTer29
NM_000939.3:c.268_269insA	NP_000930.1:p.Arg90GlnfsTer29
NM_001035256.2:c.268_269insA	NP_001030333.1:p.Arg90GlnfsTer29
NM_001319204.1:c.268_269insA	NP_001306133.1:p.Arg90GlnfsTer29
NM_001319205.1:c.268_269insA	NP_001306134.1:p.Arg90GlnfsTer29
NM_000939.4:c.268_269insA MANE Select	NP_000930.1:p.Arg90GlnfsTer29
NM_001319204.2:c.268_269insA	NP_001306133.1:p.Arg90GlnfsTer29
NM_001319205.2:c.268_269insA	NP_001306134.1:p.Arg90GlnfsTer29
NM_001035256.3:c.268_269insA	NP_001030333.1:p.Arg90GlnfsTer29