Canonical Allele Identifier: CA425352837
Gene: POMC HGNC NCBI

Linked Data

dbSNP Id: rs2149219077
MyVariant Identifiers: chr2:g.25383971G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25161102G>A , CM000664.2:g.25161102G>A GRCh38
NC_000002.11:g.25383971G>A , CM000664.1:g.25383971G>A GRCh37
NC_000002.10:g.25237475G>A NCBI36
NG_008997.1:g.12589C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395826.7:c.783C>T MANE Select ENSP00000379170.2:p.Asn261=
ENST00000264708.7:c.783C>T ENSP00000264708.3:p.Asn261=
ENST00000380794.5:c.783C>T ENSP00000370171.1:p.Asn261=
ENST00000395826.6:c.783C>T ENSP00000379170.2:p.Asn261=
ENST00000405623.5:c.783C>T ENSP00000384092.1:p.Asn261=
NM_000939.2:c.783C>T NP_000930.1:p.Asn261=
NM_001035256.1:c.783C>T NP_001030333.1:p.Asn261=
XM_011532917.1:c.783C>T XP_011531219.1:p.Asn261=
NM_000939.3:c.783C>T NP_000930.1:p.Asn261=
NM_001035256.2:c.783C>T NP_001030333.1:p.Asn261=
NM_001319204.1:c.783C>T NP_001306133.1:p.Asn261=
NM_001319205.1:c.783C>T NP_001306134.1:p.Asn261=
NM_000939.4:c.783C>T MANE Select NP_000930.1:p.Asn261=
NM_001319204.2:c.783C>T NP_001306133.1:p.Asn261=
NM_001319205.2:c.783C>T NP_001306134.1:p.Asn261=
NM_001035256.3:c.783C>T NP_001030333.1:p.Asn261=