Canonical Allele Identifier: CA361163845
Community Standard Title: NM_004883.3(NRG2):c.982G>A (p.Val328Ile)
Gene: NRG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139880865C>T , CM000667.2:g.139880865C>T GRCh38
NC_000005.9:g.139260450C>T , CM000667.1:g.139260450C>T GRCh37
NC_000005.8:g.139240634C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004883.3:c.982G>A MANE Select NP_004874.1:p.Val328Ile
ENST00000361474.6:c.982G>A MANE Select ENSP00000354910.1:p.Val328Ile
NM_001184935.1:c.982G>A NP_001171864.1:p.Val328Ile
NM_001184935.2:c.982G>A NP_001171864.1:p.Val328Ile
NM_004883.2:c.982G>A NP_004874.1:p.Val328Ile
NM_013981.3:c.982G>A NP_053584.1:p.Val328Ile
NM_013981.4:c.982G>A NP_053584.1:p.Val328Ile
NM_013982.2:c.982G>A NP_053585.1:p.Val328Ile
NM_013982.3:c.982G>A NP_053585.1:p.Val328Ile
NM_013983.2:c.982G>A NP_053586.1:p.Val328Ile
NM_013983.3:c.982G>A NP_053586.1:p.Val328Ile
ENST00000289409.8:c.982G>A ENSP00000289409.4:p.Val328Ile
ENST00000289422.11:c.982G>A ENSP00000289422.7:p.Val328Ile
ENST00000340391.7:c.373G>A ENSP00000342660.3:p.Val125Ile
ENST00000340391.8:c.373G>A ENSP00000342660.3:p.Val125Ile
ENST00000358522.7:c.982G>A ENSP00000351323.3:p.Val328Ile
ENST00000361474.5:c.982G>A ENSP00000354910.1:p.Val328Ile
ENST00000378238.5:c.982G>A ENSP00000367483.4:p.Val328Ile
ENST00000518130.1:n.286G>A
ENST00000541337.5:c.982G>A ENSP00000444235.1:p.Val328Ile
XM_005268533.4:c.-251G>A XP_005268590.1:n.-251G>A
XM_006714808.1:c.373G>A XP_006714871.1:p.Val125Ile
XM_006714810.2:c.982G>A XP_006714873.1:p.Val328Ile
XM_006714810.3:c.982G>A XP_006714873.1:p.Val328Ile
XM_011537710.1:c.982G>A XP_011536012.1:p.Val328Ile
XM_011537711.1:c.259G>A XP_011536013.1:p.Val87Ile
XM_011537712.1:c.-82G>A XP_011536014.1:n.-82G>A
XM_011537713.1:c.982G>A XP_011536015.1:p.Val328Ile
XM_011537713.2:c.982G>A XP_011536015.1:p.Val328Ile
XM_017010064.2:c.-82G>A XP_016865553.1:n.-82G>A
XM_017010065.2:c.-251G>A XP_016865554.1:n.-251G>A
XM_024446261.1:c.373G>A XP_024302029.1:p.Val125Ile
XR_001742351.1:n.1346G>A
XR_001742352.2:n.1346G>A
XR_944342.1:n.1274G>A