Canonical Allele Identifier: CA2625672223

Gene: LTBP2

Linked Data

• gnomAD v4: 14-74501043-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74501043A>C , CM000676.2:g.74501043A>C	GRCh38
NC_000014.8:g.74967746A>C , CM000676.1:g.74967746A>C	GRCh37
NC_000014.7:g.74037499A>C	NCBI36
NG_021486.1:g.116289T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.5321-14T>G MANE Select	ENSP00000261978.4:n.5321-14T>G
ENST00000261978.8:c.5321-14T>G	ENSP00000261978.4:n.5321-14T>G
ENST00000553939.5:c.*100-14T>G	ENSP00000452110.1:n.*100-14T>G
ENST00000554861.1:n.539-14T>G
ENST00000556690.5:c.5189-14T>G	ENSP00000451477.1:n.5189-14T>G
NM_000428.2:c.5321-14T>G	NP_000419.1:n.5321-14T>G
XM_011536765.1:c.4940-14T>G	XP_011535067.1:n.4940-14T>G
XM_011536766.1:c.4862-14T>G	XP_011535068.1:n.4862-14T>G
XM_011536767.1:c.4838-14T>G	XP_011535069.1:n.4838-14T>G
XM_011536765.2:c.4940-14T>G	XP_011535067.1:n.4940-14T>G
NM_000428.3:c.5321-14T>G MANE Select	NP_000419.1:n.5321-14T>G