Canonical Allele Identifier: CA346066130

Gene: POMC

Linked Data

• dbSNP Id: rs1259228711
• gnomAD v2: 2-25384005-A-T
• gnomAD v4: 2-25161136-A-T
• MyVariant Identifiers: chr2:g.25384005A>T (hg19) ; chr2:g.25161136A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161136A>T , CM000664.2:g.25161136A>T	GRCh38
NC_000002.11:g.25384005A>T , CM000664.1:g.25384005A>T	GRCh37
NC_000002.10:g.25237509A>T	NCBI36
NG_008997.1:g.12555T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.749T>A MANE Select	ENSP00000379170.2:p.Leu250Gln
ENST00000264708.7:c.749T>A	ENSP00000264708.3:p.Leu250Gln
ENST00000380794.5:c.749T>A	ENSP00000370171.1:p.Leu250Gln
ENST00000395826.6:c.749T>A	ENSP00000379170.2:p.Leu250Gln
ENST00000405623.5:c.749T>A	ENSP00000384092.1:p.Leu250Gln
NM_000939.2:c.749T>A	NP_000930.1:p.Leu250Gln
NM_001035256.1:c.749T>A	NP_001030333.1:p.Leu250Gln
XM_011532917.1:c.749T>A	XP_011531219.1:p.Leu250Gln
NM_000939.3:c.749T>A	NP_000930.1:p.Leu250Gln
NM_001035256.2:c.749T>A	NP_001030333.1:p.Leu250Gln
NM_001319204.1:c.749T>A	NP_001306133.1:p.Leu250Gln
NM_001319205.1:c.749T>A	NP_001306134.1:p.Leu250Gln
NM_000939.4:c.749T>A MANE Select	NP_000930.1:p.Leu250Gln
NM_001319204.2:c.749T>A	NP_001306133.1:p.Leu250Gln
NM_001319205.2:c.749T>A	NP_001306134.1:p.Leu250Gln
NM_001035256.3:c.749T>A	NP_001030333.1:p.Leu250Gln