Canonical Allele Identifier: CA1555337

Gene: POMC

Linked Data

• ClinVar Variation Id: 896987
• ClinVar RCV Id: RCV001140000 ; RCV001140001 ; RCV002480521
• dbSNP Id: rs550376110
• ExAC: 2:25384471 T / C
• gnomAD v2: 2-25384471-T-C
• gnomAD v3: 2-25161602-T-C
• gnomAD v4: 2-25161602-T-C
• MyVariant Identifiers: chr2:g.25384471T>C (hg19) ; chr2:g.25161602T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161602T>C , CM000664.2:g.25161602T>C	GRCh38
NC_000002.11:g.25384471T>C , CM000664.1:g.25384471T>C	GRCh37
NC_000002.10:g.25237975T>C	NCBI36
NG_008997.1:g.12089A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395826.7:c.283A>G MANE Select	ENSP00000379170.2:p.Ser95Gly
ENST00000264708.7:c.283A>G	ENSP00000264708.3:p.Ser95Gly
ENST00000380794.5:c.283A>G	ENSP00000370171.1:p.Ser95Gly
ENST00000395826.6:c.283A>G	ENSP00000379170.2:p.Ser95Gly
ENST00000405623.5:c.283A>G	ENSP00000384092.1:p.Ser95Gly
ENST00000449220.1:c.283A>G	ENSP00000387993.1:p.Ser95Gly
NM_000939.2:c.283A>G	NP_000930.1:p.Ser95Gly
NM_001035256.1:c.283A>G	NP_001030333.1:p.Ser95Gly
XM_011532917.1:c.283A>G	XP_011531219.1:p.Ser95Gly
NM_000939.3:c.283A>G	NP_000930.1:p.Ser95Gly
NM_001035256.2:c.283A>G	NP_001030333.1:p.Ser95Gly
NM_001319204.1:c.283A>G	NP_001306133.1:p.Ser95Gly
NM_001319205.1:c.283A>G	NP_001306134.1:p.Ser95Gly
NM_000939.4:c.283A>G MANE Select	NP_000930.1:p.Ser95Gly
NM_001319204.2:c.283A>G	NP_001306133.1:p.Ser95Gly
NM_001319205.2:c.283A>G	NP_001306134.1:p.Ser95Gly
NM_001035256.3:c.283A>G	NP_001030333.1:p.Ser95Gly