Canonical Allele Identifier: CA6153583

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 510072
• ClinVar RCV Id: RCV000601306 ; RCV001401020 ; RCV002377267
• dbSNP Id: rs201538340
• ExAC: 11:68700761 G / C
• gnomAD v2: 11-68700761-G-C
• gnomAD v3: 11-68933293-G-C
• gnomAD v4: 11-68933293-G-C
• MyVariant Identifiers: chr11:g.68700761G>C (hg19) ; chr11:g.68933293G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933293G>C , CM000673.2:g.68933293G>C	GRCh38
NC_000011.9:g.68700761G>C , CM000673.1:g.68700761G>C	GRCh37
NC_000011.8:g.68457337G>C	NCBI36
NG_007976.1:g.34443G>C , LRG_250:g.34443G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1236-6G>C MANE Select	ENSP00000255078.4:n.1236-6G>C
ENST00000536803.2:n.141G>C
ENST00000674955.1:c.1348-6G>C	ENSP00000502463.1:n.1348-6G>C
ENST00000675118.1:c.724-6G>C
ENST00000675310.1:n.373-6G>C
ENST00000675615.1:c.1236-6G>C	ENSP00000502413.1:n.1236-6G>C
ENST00000675648.1:n.611-6G>C
ENST00000675997.1:n.113-1171G>C
ENST00000676149.1:n.310-6G>C
ENST00000676173.1:n.1981-6G>C
ENST00000676228.1:c.*559-6G>C	ENSP00000502375.1:n.*559-6G>C
ENST00000255078.7:c.1236-6G>C	ENSP00000255078.3:n.1236-6G>C
ENST00000536803.1:n.345-6G>C
ENST00000537458.5:n.347G>C
ENST00000539064.5:n.989G>C
ENST00000543739.5:n.347G>C
ENST00000568742.1:n.458-6G>C
NM_002180.2:c.1236-6G>C , LRG_250t1:c.1236-6G>C	NP_002171.2:n.1236-6G>C
XM_005273974.2:c.225-6G>C	XP_005274031.1:n.225-6G>C
XM_005273975.2:c.108-6G>C	XP_005274032.1:n.108-6G>C
XM_011544994.1:c.3-6G>C	XP_011543296.1:n.3-6G>C
XR_247198.1:n.2039-6G>C
XR_949903.1:n.1338-6G>C
XM_005273975.3:c.108-6G>C	XP_005274032.1:n.108-6G>C
XM_017017669.2:c.225-6G>C	XP_016873158.1:n.225-6G>C
XM_017017670.2:c.225-6G>C	XP_016873159.1:n.225-6G>C
XM_017017671.2:c.1236-6G>C	XP_016873160.1:n.1236-6G>C
XR_949903.3:n.1334-6G>C
NM_002180.3:c.1236-6G>C MANE Select	NP_002171.2:n.1236-6G>C