Canonical Allele Identifier: CA6153423
Community Standard Title: NM_002180.3(IGHMBP2):c.884A>G (p.Asp295Gly)
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68914995A>G , CM000673.2:g.68914995A>G GRCh38
NC_000011.9:g.68682463A>G , CM000673.1:g.68682463A>G GRCh37
NC_000011.8:g.68439039A>G NCBI36
NG_007976.1:g.16145A>G , LRG_250:g.16145A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002180.3:c.884A>G MANE Select NP_002171.2:p.Asp295Gly
ENST00000255078.8:c.884A>G MANE Select ENSP00000255078.4:p.Asp295Gly
NM_002180.2:c.884A>G , LRG_250t1:c.884A>G NP_002171.2:p.Asp295Gly
ENST00000255078.7:c.884A>G ENSP00000255078.3:p.Asp295Gly
ENST00000539224.2:c.1013A>G
ENST00000674955.1:c.884A>G ENSP00000502463.1:p.Asp295Gly
ENST00000675118.1:c.231A>G
ENST00000675119.1:c.173A>G ENSP00000501861.1:p.Asp58Gly
ENST00000675305.1:c.173A>G ENSP00000502365.1:p.Asp58Gly
ENST00000675464.1:c.173A>G ENSP00000502650.1:p.Asp58Gly
ENST00000675615.1:c.884A>G ENSP00000502413.1:p.Asp295Gly
ENST00000675683.1:c.271A>G
ENST00000676173.1:n.928A>G
ENST00000676228.1:c.*207A>G ENSP00000502375.1:n.*207A>G
ENST00000676239.1:n.198A>G
XM_005273974.2:c.-128A>G XP_005274031.1:n.-128A>G
XM_005273976.1:c.884A>G XP_005274033.1:p.Asp295Gly
XM_005273976.2:c.884A>G XP_005274033.1:p.Asp295Gly
XM_017017669.2:c.-128A>G XP_016873158.1:n.-128A>G
XM_017017670.2:c.-128A>G XP_016873159.1:n.-128A>G
XM_017017671.2:c.884A>G XP_016873160.1:p.Asp295Gly
XR_247198.1:n.986A>G
XR_949903.1:n.986A>G
XR_949903.3:n.982A>G