Canonical Allele Identifier: CA381644293

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68682329T>A (hg19) ; chr11:g.68914861T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914861T>A , CM000673.2:g.68914861T>A	GRCh38
NC_000011.9:g.68682329T>A , CM000673.1:g.68682329T>A	GRCh37
NC_000011.8:g.68438905T>A	NCBI36
NG_007976.1:g.16011T>A , LRG_250:g.16011T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.750T>A MANE Select	ENSP00000255078.4:p.Asn250Lys
ENST00000539224.2:c.879T>A
ENST00000674955.1:c.750T>A	ENSP00000502463.1:p.Asn250Lys
ENST00000675118.1:c.97T>A
ENST00000675119.1:c.39T>A	ENSP00000501861.1:p.Asn13Lys
ENST00000675305.1:c.39T>A	ENSP00000502365.1:p.Asn13Lys
ENST00000675464.1:c.39T>A	ENSP00000502650.1:p.Asn13Lys
ENST00000675615.1:c.750T>A	ENSP00000502413.1:p.Asn250Lys
ENST00000675683.1:c.137T>A
ENST00000676173.1:n.794T>A
ENST00000676228.1:c.*73T>A	ENSP00000502375.1:n.*73T>A
ENST00000676239.1:n.64T>A
ENST00000255078.7:c.750T>A	ENSP00000255078.3:p.Asn250Lys
ENST00000539224.1:c.*73T>A	ENSP00000440465.1:n.*73T>A
NM_002180.2:c.750T>A , LRG_250t1:c.750T>A	NP_002171.2:p.Asn250Lys
XM_005273974.2:c.-262T>A	XP_005274031.1:n.-262T>A
XM_005273976.1:c.750T>A	XP_005274033.1:p.Asn250Lys
XR_247198.1:n.852T>A
XR_949903.1:n.852T>A
XM_005273976.2:c.750T>A	XP_005274033.1:p.Asn250Lys
XM_017017669.2:c.-262T>A	XP_016873158.1:n.-262T>A
XM_017017670.2:c.-262T>A	XP_016873159.1:n.-262T>A
XM_017017671.2:c.750T>A	XP_016873160.1:p.Asn250Lys
XR_949903.3:n.848T>A
NM_002180.3:c.750T>A MANE Select	NP_002171.2:p.Asn250Lys