Canonical Allele Identifier: CA381653124

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704193T>G (hg19) ; chr11:g.68936725T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936725T>G , CM000673.2:g.68936725T>G	GRCh38
NC_000011.9:g.68704193T>G , CM000673.1:g.68704193T>G	GRCh37
NC_000011.8:g.68460769T>G	NCBI36
NG_007976.1:g.37875T>G , LRG_250:g.37875T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2245T>G MANE Select	ENSP00000255078.4:p.Ser749Ala
ENST00000674675.1:c.489T>G
ENST00000674878.1:c.489T>G
ENST00000674955.1:c.*962T>G	ENSP00000502463.1:n.*962T>G
ENST00000675118.1:c.1733T>G
ENST00000675389.1:n.520T>G
ENST00000675615.1:c.2245T>G	ENSP00000502413.1:p.Ser749Ala
ENST00000675648.1:n.1620T>G
ENST00000675916.1:c.489T>G
ENST00000676173.1:n.2990T>G
ENST00000676182.1:c.676T>G
ENST00000676228.1:c.*1568T>G	ENSP00000502375.1:n.*1568T>G
ENST00000255078.7:c.2245T>G	ENSP00000255078.3:p.Ser749Ala
ENST00000539064.5:n.2004T>G
ENST00000543739.5:n.1238T>G
NM_002180.2:c.2245T>G , LRG_250t1:c.2245T>G	NP_002171.2:p.Ser749Ala
XM_005273974.2:c.1234T>G	XP_005274031.1:p.Ser412Ala
XM_005273975.2:c.1117T>G	XP_005274032.1:p.Ser373Ala
XM_011544994.1:c.1012T>G	XP_011543296.1:p.Ser338Ala
XR_949903.1:n.2347T>G
XM_005273975.3:c.1117T>G	XP_005274032.1:p.Ser373Ala
XM_017017669.2:c.1234T>G	XP_016873158.1:p.Ser412Ala
XM_017017670.2:c.1234T>G	XP_016873159.1:p.Ser412Ala
XR_949903.3:n.2343T>G
NM_002180.3:c.2245T>G MANE Select	NP_002171.2:p.Ser749Ala