Canonical Allele Identifier: CA15847871
Gene: NIPA2 HGNC NCBI

Linked Data

dbSNP Id: rs3764213
gnomAD v2: 15-23027667-C-G
gnomAD v3: 15-22845401-G-C
gnomAD v4: 15-22845401-G-C
MyVariant Identifiers: chr15:g.23027667C>G (hg19) chr15:g.22845401G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22845401G>C , CM000677.2:g.22845401G>C GRCh38
NC_000015.9:g.23027667C>G , CM000677.1:g.23027667C>G GRCh37
NC_000015.8:g.20579108C>G NCBI36
NG_021303.1:g.11761G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000337451.8:c.-94+134G>C MANE Select ENSP00000337618.3:n.-94+134G>C
ENST00000398014.7:c.-94+134G>C ENSP00000381096.3:n.-94+134G>C
ENST00000561072.2:c.-94+134G>C ENSP00000501507.1:n.-94+134G>C
ENST00000674173.1:c.-94+134G>C ENSP00000501408.1:n.-94+134G>C
ENST00000674289.1:c.-94+134G>C ENSP00000501412.1:n.-94+134G>C
ENST00000674330.1:c.-94+6227G>C ENSP00000501373.1:n.-94+6227G>C
ENST00000674477.1:c.-94+5611G>C ENSP00000501489.1:n.-94+5611G>C
ENST00000337451.7:c.-94+134G>C ENSP00000337618.3:n.-94+134G>C
ENST00000359727.8:c.-94+134G>C ENSP00000352762.4:n.-94+134G>C
ENST00000398013.7:c.-93-6238G>C ENSP00000381095.3:n.-93-6238G>C
ENST00000398014.6:c.-94+5611G>C ENSP00000381096.2:n.-94+5611G>C
ENST00000539711.2:c.-93-6238G>C ENSP00000437746.2:n.-93-6238G>C
ENST00000559571.1:n.635+5611G>C
ENST00000560039.1:c.-24+134G>C ENSP00000453700.1:n.-24+134G>C
ENST00000560205.5:n.562+134G>C
ENST00000560762.5:n.511+5611G>C
ENST00000561072.1:n.486+6227G>C
NM_001008860.2:c.-94+5611G>C NP_001008860.1:n.-94+5611G>C
NM_001008892.2:c.-93-6238G>C NP_001008892.1:n.-93-6238G>C
NM_001008894.2:c.-93-6238G>C NP_001008894.1:n.-93-6238G>C
NM_001184888.1:c.-94+134G>C NP_001171817.1:n.-94+134G>C
NM_001184889.1:c.-192+134G>C NP_001171818.1:n.-192+134G>C
NM_030922.6:c.-94+134G>C NP_112184.4:n.-94+134G>C
XM_005272546.2:c.-94+134G>C XP_005272603.1:n.-94+134G>C
XM_005272547.3:c.-94+134G>C XP_005272604.1:n.-94+134G>C
XM_005272548.2:c.-94+134G>C XP_005272605.1:n.-94+134G>C
XM_005272549.2:c.-94+134G>C XP_005272606.1:n.-94+134G>C
XM_005272550.2:c.-94+134G>C XP_005272607.1:n.-94+134G>C
XM_005272552.2:c.-94+6227G>C XP_005272609.1:n.-94+6227G>C
XM_005272553.3:c.-93-6238G>C XP_005272610.1:n.-93-6238G>C
XM_006720364.1:c.-94+134G>C XP_006720427.1:n.-94+134G>C
XM_006720365.1:c.-94+5611G>C XP_006720428.1:n.-94+5611G>C
XM_006720366.2:c.-94+6227G>C XP_006720429.1:n.-94+6227G>C
XM_006720367.1:c.-94+134G>C XP_006720430.1:n.-94+134G>C
XM_011543877.1:c.-94+134G>C XP_011542179.1:n.-94+134G>C
XM_011543878.1:c.-388+134G>C XP_011542180.1:n.-388+134G>C
XM_011543879.1:c.-192+134G>C XP_011542181.1:n.-192+134G>C
XM_011543880.1:c.-94+5611G>C XP_011542182.1:n.-94+5611G>C
XM_011543881.1:c.-94+6227G>C XP_011542183.1:n.-94+6227G>C
XM_005272546.3:c.-94+134G>C XP_005272603.1:n.-94+134G>C
XM_005272547.4:c.-94+134G>C XP_005272604.1:n.-94+134G>C
XM_005272548.3:c.-94+134G>C XP_005272605.1:n.-94+134G>C
XM_005272550.3:c.-94+134G>C XP_005272607.1:n.-94+134G>C
XM_005272552.4:c.-94+6227G>C XP_005272609.1:n.-94+6227G>C
XM_005272553.5:c.-93-6238G>C XP_005272610.1:n.-93-6238G>C
XM_006720364.2:c.-94+134G>C XP_006720427.1:n.-94+134G>C
XM_006720365.3:c.-94+5611G>C XP_006720428.1:n.-94+5611G>C
XM_006720366.4:c.-94+6227G>C XP_006720429.1:n.-94+6227G>C
XM_011543877.2:c.-94+134G>C XP_011542179.1:n.-94+134G>C
XM_011543878.3:c.-388+134G>C XP_011542180.1:n.-388+134G>C
XM_011543879.3:c.-192+134G>C XP_011542181.1:n.-192+134G>C
XM_011543880.3:c.-94+5611G>C XP_011542182.1:n.-94+5611G>C
XM_017022645.1:c.-94+134G>C XP_016878134.1:n.-94+134G>C
XM_017022646.1:c.-94+134G>C XP_016878135.1:n.-94+134G>C
XM_017022647.1:c.-94+134G>C XP_016878136.1:n.-94+134G>C
XM_017022648.1:c.-94+134G>C XP_016878137.1:n.-94+134G>C
XM_017022649.2:c.-192+134G>C XP_016878138.1:n.-192+134G>C
XM_017022650.2:c.-388+134G>C XP_016878139.1:n.-388+134G>C
XM_017022651.2:c.-388+134G>C XP_016878140.1:n.-388+134G>C
XM_017022652.2:c.-192+134G>C XP_016878141.1:n.-192+134G>C
XM_017022653.2:c.-388+134G>C XP_016878142.1:n.-388+134G>C
XM_017022654.2:c.-192+134G>C XP_016878143.1:n.-192+134G>C
XM_017022655.1:c.-94+134G>C XP_016878144.1:n.-94+134G>C
XM_017022656.1:c.-94+134G>C XP_016878145.1:n.-94+134G>C
XM_017022657.1:c.-94+134G>C XP_016878146.1:n.-94+134G>C
XM_017022658.1:c.-94+134G>C XP_016878147.1:n.-94+134G>C
XM_017022659.1:c.-192+134G>C XP_016878148.1:n.-192+134G>C
XM_017022660.1:c.-94+5611G>C XP_016878149.1:n.-94+5611G>C
XM_017022661.1:c.-94+5611G>C XP_016878150.1:n.-94+5611G>C
XM_017022662.1:c.-94+6227G>C XP_016878151.1:n.-94+6227G>C
XM_017022663.1:c.-93-6238G>C XP_016878152.1:n.-93-6238G>C
XM_024450083.1:c.-94+134G>C XP_024305851.1:n.-94+134G>C
NM_001008860.3:c.-94+5611G>C NP_001008860.1:n.-94+5611G>C
NM_001008892.3:c.-93-6238G>C NP_001008892.1:n.-93-6238G>C
NM_001008894.3:c.-93-6238G>C NP_001008894.1:n.-93-6238G>C
NM_001184888.2:c.-94+134G>C NP_001171817.1:n.-94+134G>C
NM_001184889.2:c.-192+134G>C NP_001171818.1:n.-192+134G>C
NM_030922.7:c.-94+134G>C MANE Select NP_112184.4:n.-94+134G>C
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