Canonical Allele Identifier: CA767152158

Gene: POMC

Linked Data

• dbSNP Id: rs1380385016
• gnomAD v3: 2-25168233-G-A
• gnomAD v4: 2-25168233-G-A
• MyVariant Identifiers: chr2:g.25391102G>A (hg19) ; chr2:g.25168233G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25168233G>A , CM000664.2:g.25168233G>A	GRCh38
NC_000002.11:g.25391102G>A , CM000664.1:g.25391102G>A	GRCh37
NC_000002.10:g.25244606G>A	NCBI36
NG_008997.1:g.5458C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395826.7:c.-21+265C>T MANE Select	ENSP00000379170.2:n.-21+265C>T
ENST00000264708.7:c.-101+265C>T	ENSP00000264708.3:n.-101+265C>T
ENST00000380794.5:c.-71+265C>T	ENSP00000370171.1:n.-71+265C>T
ENST00000395826.6:c.-21+265C>T	ENSP00000379170.2:n.-21+265C>T
ENST00000405623.5:c.-51+265C>T	ENSP00000384092.1:n.-51+265C>T
ENST00000449220.1:c.-71+265C>T	ENSP00000387993.1:n.-71+265C>T
NM_000939.2:c.-21+265C>T	NP_000930.1:n.-21+265C>T
NM_001035256.1:c.-71+265C>T	NP_001030333.1:n.-71+265C>T
XM_011532917.1:c.-51+265C>T	XP_011531219.1:n.-51+265C>T
NM_000939.3:c.-21+265C>T	NP_000930.1:n.-21+265C>T
NM_001035256.2:c.-71+265C>T	NP_001030333.1:n.-71+265C>T
NM_001319204.1:c.-101+265C>T	NP_001306133.1:n.-101+265C>T
NM_001319205.1:c.-51+265C>T	NP_001306134.1:n.-51+265C>T
NM_000939.4:c.-21+265C>T MANE Select	NP_000930.1:n.-21+265C>T
NM_001319204.2:c.-101+265C>T	NP_001306133.1:n.-101+265C>T
NM_001319205.2:c.-51+265C>T	NP_001306134.1:n.-51+265C>T
NM_001035256.3:c.-71+265C>T	NP_001030333.1:n.-71+265C>T