Canonical Allele Identifier: CA1555258

Gene: POMC

Linked Data

• ClinVar Variation Id: 381722
• ClinVar RCV Id: RCV000438358
• dbSNP Id: rs202127120
• ExAC: 2:25384138 C / A
• gnomAD v2: 2-25384138-C-A
• gnomAD v3: 2-25161269-C-A
• gnomAD v4: 2-25161269-C-A
• MyVariant Identifiers: chr2:g.25384138C>A (hg19) ; chr2:g.25161269C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161269C>A , CM000664.2:g.25161269C>A	GRCh38
NC_000002.11:g.25384138C>A , CM000664.1:g.25384138C>A	GRCh37
NC_000002.10:g.25237642C>A	NCBI36
NG_008997.1:g.12422G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395826.7:c.616G>T MANE Select	ENSP00000379170.2:p.Glu206Ter
ENST00000264708.7:c.616G>T	ENSP00000264708.3:p.Glu206Ter
ENST00000380794.5:c.616G>T	ENSP00000370171.1:p.Glu206Ter
ENST00000395826.6:c.616G>T	ENSP00000379170.2:p.Glu206Ter
ENST00000405623.5:c.616G>T	ENSP00000384092.1:p.Glu206Ter
ENST00000449220.1:c.616G>T	ENSP00000387993.1:p.Glu206Ter
NM_000939.2:c.616G>T	NP_000930.1:p.Glu206Ter
NM_001035256.1:c.616G>T	NP_001030333.1:p.Glu206Ter
XM_011532917.1:c.616G>T	XP_011531219.1:p.Glu206Ter
NM_000939.3:c.616G>T	NP_000930.1:p.Glu206Ter
NM_001035256.2:c.616G>T	NP_001030333.1:p.Glu206Ter
NM_001319204.1:c.616G>T	NP_001306133.1:p.Glu206Ter
NM_001319205.1:c.616G>T	NP_001306134.1:p.Glu206Ter
NM_000939.4:c.616G>T MANE Select	NP_000930.1:p.Glu206Ter
NM_001319204.2:c.616G>T	NP_001306133.1:p.Glu206Ter
NM_001319205.2:c.616G>T	NP_001306134.1:p.Glu206Ter
NM_001035256.3:c.616G>T	NP_001030333.1:p.Glu206Ter