Canonical Allele Identifier: CA223386209

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs370119106
• gnomAD v2: 11-68676120-T-C
• gnomAD v3: 11-68908652-T-C
• gnomAD v4: 11-68908652-T-C
• MyVariant Identifiers: chr11:g.68676120T>C (hg19) ; chr11:g.68908652T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908652T>C , CM000673.2:g.68908652T>C	GRCh38
NC_000011.9:g.68676120T>C , CM000673.1:g.68676120T>C	GRCh37
NC_000011.8:g.68432696T>C	NCBI36
NG_007976.1:g.9802T>C , LRG_250:g.9802T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.547+21T>C MANE Select	ENSP00000255078.4:n.547+21T>C
ENST00000539224.2:c.510+21T>C
ENST00000674583.1:c.510+21T>C
ENST00000674955.1:c.547+21T>C	ENSP00000502463.1:n.547+21T>C
ENST00000675142.1:n.510+21T>C
ENST00000675615.1:c.547+21T>C	ENSP00000502413.1:n.547+21T>C
ENST00000675674.1:n.510+21T>C
ENST00000675683.1:c.98+21T>C
ENST00000675873.1:c.510+21T>C
ENST00000676173.1:n.591+21T>C
ENST00000676228.1:c.449+315T>C	ENSP00000502375.1:n.449+315T>C
ENST00000255078.7:c.547+21T>C	ENSP00000255078.3:n.547+21T>C
ENST00000539224.1:c.449+315T>C	ENSP00000440465.1:n.449+315T>C
ENST00000544541.1:c.*287+21T>C	ENSP00000443343.1:n.*287+21T>C
NM_002180.2:c.547+21T>C , LRG_250t1:c.547+21T>C	NP_002171.2:n.547+21T>C
XM_005273974.2:c.-465+21T>C	XP_005274031.1:n.-465+21T>C
XM_005273976.1:c.547+21T>C	XP_005274033.1:n.547+21T>C
XR_247198.1:n.649+21T>C
XR_949903.1:n.649+21T>C
XM_005273976.2:c.547+21T>C	XP_005274033.1:n.547+21T>C
XM_017017669.2:c.-465+315T>C	XP_016873158.1:n.-465+315T>C
XM_017017671.2:c.547+21T>C	XP_016873160.1:n.547+21T>C
XR_949903.3:n.645+21T>C
NM_002180.3:c.547+21T>C MANE Select	NP_002171.2:n.547+21T>C