Canonical Allele Identifier: CA2147075341

Gene: LTBP2

Linked Data

• dbSNP Id: rs779812137
• gnomAD v4: 14-74503430-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74503430G>A , CM000676.2:g.74503430G>A	GRCh38
NC_000014.8:g.74970133G>A , CM000676.1:g.74970133G>A	GRCh37
NC_000014.7:g.74039886G>A	NCBI36
NG_021486.1:g.113902C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.4720+39C>T MANE Select	ENSP00000261978.4:n.4720+39C>T
ENST00000261978.8:c.4720+39C>T	ENSP00000261978.4:n.4720+39C>T
ENST00000553939.5:c.4720+39C>T	ENSP00000452110.1:n.4720+39C>T
ENST00000556690.5:c.4588+39C>T	ENSP00000451477.1:n.4588+39C>T
NM_000428.2:c.4720+39C>T	NP_000419.1:n.4720+39C>T
XM_011536765.1:c.4339+39C>T	XP_011535067.1:n.4339+39C>T
XM_011536766.1:c.4261+39C>T	XP_011535068.1:n.4261+39C>T
XM_011536767.1:c.4237+39C>T	XP_011535069.1:n.4237+39C>T
XM_011536765.2:c.4339+39C>T	XP_011535067.1:n.4339+39C>T
NM_000428.3:c.4720+39C>T MANE Select	NP_000419.1:n.4720+39C>T