Canonical Allele Identifier: CA6153366

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs775589219
• ExAC: 11:68682243 T / C
• gnomAD v2: 11-68682243-T-C
• gnomAD v3: 11-68914775-T-C
• gnomAD v4: 11-68914775-T-C
• MyVariant Identifiers: chr11:g.68682243T>C (hg19) ; chr11:g.68914775T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914775T>C , CM000673.2:g.68914775T>C	GRCh38
NC_000011.9:g.68682243T>C , CM000673.1:g.68682243T>C	GRCh37
NC_000011.8:g.68438819T>C	NCBI36
NG_007976.1:g.15925T>C , LRG_250:g.15925T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.712-48T>C MANE Select	ENSP00000255078.4:n.712-48T>C
ENST00000539224.2:c.841-48T>C
ENST00000674955.1:c.712-48T>C	ENSP00000502463.1:n.712-48T>C
ENST00000675118.1:c.59-48T>C
ENST00000675615.1:c.712-48T>C	ENSP00000502413.1:n.712-48T>C
ENST00000675683.1:c.99-48T>C
ENST00000676173.1:n.756-48T>C
ENST00000676228.1:c.*35-48T>C	ENSP00000502375.1:n.*35-48T>C
ENST00000676239.1:n.26-48T>C
ENST00000255078.7:c.712-48T>C	ENSP00000255078.3:n.712-48T>C
ENST00000539224.1:c.*35-48T>C	ENSP00000440465.1:n.*35-48T>C
NM_002180.2:c.712-48T>C , LRG_250t1:c.712-48T>C	NP_002171.2:n.712-48T>C
XM_005273974.2:c.-300-48T>C	XP_005274031.1:n.-300-48T>C
XM_005273976.1:c.712-48T>C	XP_005274033.1:n.712-48T>C
XR_247198.1:n.814-48T>C
XR_949903.1:n.814-48T>C
XM_005273976.2:c.712-48T>C	XP_005274033.1:n.712-48T>C
XM_017017669.2:c.-300-48T>C	XP_016873158.1:n.-300-48T>C
XM_017017670.2:c.-300-48T>C	XP_016873159.1:n.-300-48T>C
XM_017017671.2:c.712-48T>C	XP_016873160.1:n.712-48T>C
XR_949903.3:n.810-48T>C
NM_002180.3:c.712-48T>C MANE Select	NP_002171.2:n.712-48T>C