Canonical Allele Identifier: CA1555249

Gene: POMC

Linked Data

• dbSNP Id: rs764760394
• ExAC: 2:25384114 C / CAGAA
• gnomAD v2: 2-25384114-C-CAGAA
• gnomAD v4: 2-25161245-C-CAGAA
• MyVariant Identifiers: chr2:g.25384114_25384115insAGAA (hg19) ; chr2:g.25161245_25161246insAGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161245_25161246insAGAA , CM000664.2:g.25161245_25161246insAGAA	GRCh38
NC_000002.11:g.25384114_25384115insAGAA , CM000664.1:g.25384114_25384115insAGAA	GRCh37
NC_000002.10:g.25237618_25237619insAGAA	NCBI36
NG_008997.1:g.12445_12446insTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.639_640insTTCT MANE Select	ENSP00000379170.2:p.Glu214PhefsTer2
ENST00000264708.7:c.639_640insTTCT	ENSP00000264708.3:p.Glu214PhefsTer2
ENST00000380794.5:c.639_640insTTCT	ENSP00000370171.1:p.Glu214PhefsTer2
ENST00000395826.6:c.639_640insTTCT	ENSP00000379170.2:p.Glu214PhefsTer2
ENST00000405623.5:c.639_640insTTCT	ENSP00000384092.1:p.Glu214PhefsTer2
ENST00000449220.1:c.639_640insTTCT	ENSP00000387993.1:p.Glu214PhefsTer2
NM_000939.2:c.639_640insTTCT	NP_000930.1:p.Glu214PhefsTer2
NM_001035256.1:c.639_640insTTCT	NP_001030333.1:p.Glu214PhefsTer2
XM_011532917.1:c.639_640insTTCT	XP_011531219.1:p.Glu214PhefsTer2
NM_000939.3:c.639_640insTTCT	NP_000930.1:p.Glu214PhefsTer2
NM_001035256.2:c.639_640insTTCT	NP_001030333.1:p.Glu214PhefsTer2
NM_001319204.1:c.639_640insTTCT	NP_001306133.1:p.Glu214PhefsTer2
NM_001319205.1:c.639_640insTTCT	NP_001306134.1:p.Glu214PhefsTer2
NM_000939.4:c.639_640insTTCT MANE Select	NP_000930.1:p.Glu214PhefsTer2
NM_001319204.2:c.639_640insTTCT	NP_001306133.1:p.Glu214PhefsTer2
NM_001319205.2:c.639_640insTTCT	NP_001306134.1:p.Glu214PhefsTer2
NM_001035256.3:c.639_640insTTCT	NP_001030333.1:p.Glu214PhefsTer2