Canonical Allele Identifier: CA381650366

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701376A>C (hg19) ; chr11:g.68933908A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933908A>C , CM000673.2:g.68933908A>C	GRCh38
NC_000011.9:g.68701376A>C , CM000673.1:g.68701376A>C	GRCh37
NC_000011.8:g.68457952A>C	NCBI36
NG_007976.1:g.35058A>C , LRG_250:g.35058A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1532A>C MANE Select	ENSP00000255078.4:p.Asn511Thr
ENST00000674955.1:c.*249A>C	ENSP00000502463.1:n.*249A>C
ENST00000675118.1:c.1020A>C
ENST00000675205.1:n.183+427A>C
ENST00000675615.1:c.1532A>C	ENSP00000502413.1:p.Asn511Thr
ENST00000675648.1:n.907A>C
ENST00000675997.1:n.113-556A>C
ENST00000676173.1:n.2277A>C
ENST00000676228.1:c.*855A>C	ENSP00000502375.1:n.*855A>C
ENST00000255078.7:c.1532A>C	ENSP00000255078.3:p.Asn511Thr
ENST00000537458.5:n.649A>C
ENST00000539064.5:n.1291A>C
ENST00000541229.5:n.227A>C
ENST00000543739.5:n.649A>C
NM_002180.2:c.1532A>C , LRG_250t1:c.1532A>C	NP_002171.2:p.Asn511Thr
XM_005273974.2:c.521A>C	XP_005274031.1:p.Asn174Thr
XM_005273975.2:c.404A>C	XP_005274032.1:p.Asn135Thr
XM_011544994.1:c.299A>C	XP_011543296.1:p.Asn100Thr
XR_949903.1:n.1634A>C
XM_005273975.3:c.404A>C	XP_005274032.1:p.Asn135Thr
XM_017017669.2:c.521A>C	XP_016873158.1:p.Asn174Thr
XM_017017670.2:c.521A>C	XP_016873159.1:p.Asn174Thr
XM_017017671.2:c.1532A>C	XP_016873160.1:p.Asn511Thr
XR_949903.3:n.1630A>C
NM_002180.3:c.1532A>C MANE Select	NP_002171.2:p.Asn511Thr