Canonical Allele Identifier: CA381649788

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701294A>C (hg19) ; chr11:g.68933826A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933826A>C , CM000673.2:g.68933826A>C	GRCh38
NC_000011.9:g.68701294A>C , CM000673.1:g.68701294A>C	GRCh37
NC_000011.8:g.68457870A>C	NCBI36
NG_007976.1:g.34976A>C , LRG_250:g.34976A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1450A>C MANE Select	ENSP00000255078.4:p.Thr484Pro
ENST00000674955.1:c.*167A>C	ENSP00000502463.1:n.*167A>C
ENST00000675118.1:c.938A>C
ENST00000675205.1:n.183+345A>C
ENST00000675615.1:c.1450A>C	ENSP00000502413.1:p.Thr484Pro
ENST00000675648.1:n.825A>C
ENST00000675997.1:n.113-638A>C
ENST00000676173.1:n.2195A>C
ENST00000676228.1:c.*773A>C	ENSP00000502375.1:n.*773A>C
ENST00000255078.7:c.1450A>C	ENSP00000255078.3:p.Thr484Pro
ENST00000537458.5:n.567A>C
ENST00000539064.5:n.1209A>C
ENST00000541229.5:n.145A>C
ENST00000543739.5:n.567A>C
NM_002180.2:c.1450A>C , LRG_250t1:c.1450A>C	NP_002171.2:p.Thr484Pro
XM_005273974.2:c.439A>C	XP_005274031.1:p.Thr147Pro
XM_005273975.2:c.322A>C	XP_005274032.1:p.Thr108Pro
XM_011544994.1:c.217A>C	XP_011543296.1:p.Thr73Pro
XR_949903.1:n.1552A>C
XM_005273975.3:c.322A>C	XP_005274032.1:p.Thr108Pro
XM_017017669.2:c.439A>C	XP_016873158.1:p.Thr147Pro
XM_017017670.2:c.439A>C	XP_016873159.1:p.Thr147Pro
XM_017017671.2:c.1450A>C	XP_016873160.1:p.Thr484Pro
XR_949903.3:n.1548A>C
NM_002180.3:c.1450A>C MANE Select	NP_002171.2:p.Thr484Pro