Canonical Allele Identifier: CA381651680

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703789C>A (hg19) ; chr11:g.68936321C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936321C>A , CM000673.2:g.68936321C>A	GRCh38
NC_000011.9:g.68703789C>A , CM000673.1:g.68703789C>A	GRCh37
NC_000011.8:g.68460365C>A	NCBI36
NG_007976.1:g.37471C>A , LRG_250:g.37471C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1841C>A MANE Select	ENSP00000255078.4:p.Ser614Tyr
ENST00000674675.1:c.85C>A
ENST00000674878.1:c.85C>A
ENST00000674955.1:c.*558C>A	ENSP00000502463.1:n.*558C>A
ENST00000675118.1:c.1329C>A
ENST00000675389.1:n.116C>A
ENST00000675615.1:c.1841C>A	ENSP00000502413.1:p.Ser614Tyr
ENST00000675648.1:n.1216C>A
ENST00000675916.1:c.85C>A
ENST00000676173.1:n.2586C>A
ENST00000676182.1:c.272C>A
ENST00000676228.1:c.*1164C>A	ENSP00000502375.1:n.*1164C>A
ENST00000255078.7:c.1841C>A	ENSP00000255078.3:p.Ser614Tyr
ENST00000539064.5:n.1600C>A
ENST00000541229.5:n.536C>A
ENST00000543739.5:n.834C>A
ENST00000545475.1:n.437C>A
NM_002180.2:c.1841C>A , LRG_250t1:c.1841C>A	NP_002171.2:p.Ser614Tyr
XM_005273974.2:c.830C>A	XP_005274031.1:p.Ser277Tyr
XM_005273975.2:c.713C>A	XP_005274032.1:p.Ser238Tyr
XM_011544994.1:c.608C>A	XP_011543296.1:p.Ser203Tyr
XR_949903.1:n.1943C>A
XM_005273975.3:c.713C>A	XP_005274032.1:p.Ser238Tyr
XM_017017669.2:c.830C>A	XP_016873158.1:p.Ser277Tyr
XM_017017670.2:c.830C>A	XP_016873159.1:p.Ser277Tyr
XR_949903.3:n.1939C>A
NM_002180.3:c.1841C>A MANE Select	NP_002171.2:p.Ser614Tyr