Canonical Allele Identifier: CA2802156172
Gene: LTBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74501084C>G , CM000676.2:g.74501084C>G GRCh38
NC_000014.8:g.74967787C>G , CM000676.1:g.74967787C>G GRCh37
NC_000014.7:g.74037540C>G NCBI36
NG_021486.1:g.116248G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261978.9:c.5321-55G>C MANE Select ENSP00000261978.4:n.5321-55G>C
ENST00000261978.8:c.5321-55G>C ENSP00000261978.4:n.5321-55G>C
ENST00000553939.5:c.*100-55G>C ENSP00000452110.1:n.*100-55G>C
ENST00000554861.1:n.539-55G>C
ENST00000556690.5:c.5189-55G>C ENSP00000451477.1:n.5189-55G>C
NM_000428.2:c.5321-55G>C NP_000419.1:n.5321-55G>C
XM_011536765.1:c.4940-55G>C XP_011535067.1:n.4940-55G>C
XM_011536766.1:c.4862-55G>C XP_011535068.1:n.4862-55G>C
XM_011536767.1:c.4838-55G>C XP_011535069.1:n.4838-55G>C
XM_011536765.2:c.4940-55G>C XP_011535067.1:n.4940-55G>C
NM_000428.3:c.5321-55G>C MANE Select NP_000419.1:n.5321-55G>C