Canonical Allele Identifier: CA2802156148
Gene: LTBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74501050G>C , CM000676.2:g.74501050G>C GRCh38
NC_000014.8:g.74967753G>C , CM000676.1:g.74967753G>C GRCh37
NC_000014.7:g.74037506G>C NCBI36
NG_021486.1:g.116282C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261978.9:c.5321-21C>G MANE Select ENSP00000261978.4:n.5321-21C>G
ENST00000261978.8:c.5321-21C>G ENSP00000261978.4:n.5321-21C>G
ENST00000553939.5:c.*100-21C>G ENSP00000452110.1:n.*100-21C>G
ENST00000554861.1:n.539-21C>G
ENST00000556690.5:c.5189-21C>G ENSP00000451477.1:n.5189-21C>G
NM_000428.2:c.5321-21C>G NP_000419.1:n.5321-21C>G
XM_011536765.1:c.4940-21C>G XP_011535067.1:n.4940-21C>G
XM_011536766.1:c.4862-21C>G XP_011535068.1:n.4862-21C>G
XM_011536767.1:c.4838-21C>G XP_011535069.1:n.4838-21C>G
XM_011536765.2:c.4940-21C>G XP_011535067.1:n.4940-21C>G
NM_000428.3:c.5321-21C>G MANE Select NP_000419.1:n.5321-21C>G