Canonical Allele Identifier: CA13943117

Gene: LTBP2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74524043A>G , CM000676.2:g.74524043A>G	GRCh38
NC_000014.8:g.74990746A>G , CM000676.1:g.74990746A>G	GRCh37
NC_000014.7:g.74060499A>G	NCBI36
NG_021486.1:g.93289T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.2530+1081T>C MANE Select	ENSP00000261978.4:n.2530+1081T>C
ENST00000261978.8:c.2530+1081T>C	ENSP00000261978.4:n.2530+1081T>C
ENST00000553939.5:c.2530+1081T>C	ENSP00000452110.1:n.2530+1081T>C
ENST00000556690.5:c.2530+1081T>C	ENSP00000451477.1:n.2530+1081T>C
NM_000428.2:c.2530+1081T>C	NP_000419.1:n.2530+1081T>C
XM_011536765.1:c.2149+1081T>C	XP_011535067.1:n.2149+1081T>C
XM_011536766.1:c.2071+1081T>C	XP_011535068.1:n.2071+1081T>C
XM_011536767.1:c.2047+1081T>C	XP_011535069.1:n.2047+1081T>C
XM_011536765.2:c.2149+1081T>C	XP_011535067.1:n.2149+1081T>C
NM_000428.3:c.2530+1081T>C MANE Select	NP_000419.1:n.2530+1081T>C