Canonical Allele Identifier: CA381644615
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68915010T>G , CM000673.2:g.68915010T>G GRCh38
NC_000011.9:g.68682478T>G , CM000673.1:g.68682478T>G GRCh37
NC_000011.8:g.68439054T>G NCBI36
NG_007976.1:g.16160T>G , LRG_250:g.16160T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.899T>G MANE Select ENSP00000255078.4:p.Ile300Ser
ENST00000539224.2:c.1028T>G
ENST00000674955.1:c.899T>G ENSP00000502463.1:p.Ile300Ser
ENST00000675118.1:c.246T>G
ENST00000675119.1:c.188T>G ENSP00000501861.1:p.Ile63Ser
ENST00000675305.1:c.188T>G ENSP00000502365.1:p.Ile63Ser
ENST00000675464.1:c.188T>G ENSP00000502650.1:p.Ile63Ser
ENST00000675615.1:c.899T>G ENSP00000502413.1:p.Ile300Ser
ENST00000675683.1:c.286T>G
ENST00000676173.1:n.943T>G
ENST00000676228.1:c.*222T>G ENSP00000502375.1:n.*222T>G
ENST00000676239.1:n.213T>G
ENST00000255078.7:c.899T>G ENSP00000255078.3:p.Ile300Ser
NM_002180.2:c.899T>G , LRG_250t1:c.899T>G NP_002171.2:p.Ile300Ser
XM_005273974.2:c.-113T>G XP_005274031.1:n.-113T>G
XM_005273976.1:c.899T>G XP_005274033.1:p.Ile300Ser
XR_247198.1:n.1001T>G
XR_949903.1:n.1001T>G
XM_005273976.2:c.899T>G XP_005274033.1:p.Ile300Ser
XM_017017669.2:c.-113T>G XP_016873158.1:n.-113T>G
XM_017017670.2:c.-113T>G XP_016873159.1:n.-113T>G
XM_017017671.2:c.899T>G XP_016873160.1:p.Ile300Ser
XR_949903.3:n.997T>G
NM_002180.3:c.899T>G MANE Select NP_002171.2:p.Ile300Ser