Canonical Allele Identifier: CA7268696
Community Standard Title: NM_000428.3(LTBP2):c.4620C>T (p.Gly1540=)
Gene: LTBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74503569G>A , CM000676.2:g.74503569G>A GRCh38
NC_000014.8:g.74970272G>A , CM000676.1:g.74970272G>A GRCh37
NC_000014.7:g.74040025G>A NCBI36
NG_021486.1:g.113763C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000428.3:c.4620C>T MANE Select NP_000419.1:p.Gly1540=
ENST00000261978.9:c.4620C>T MANE Select ENSP00000261978.4:p.Gly1540=
NM_000428.2:c.4620C>T NP_000419.1:p.Gly1540=
ENST00000261978.8:c.4620C>T ENSP00000261978.4:p.Gly1540=
ENST00000553939.5:c.4620C>T ENSP00000452110.1:p.Gly1540=
ENST00000556690.5:c.4488C>T ENSP00000451477.1:p.Gly1496=
XM_011536765.1:c.4239C>T XP_011535067.1:p.Gly1413=
XM_011536765.2:c.4239C>T XP_011535067.1:p.Gly1413=
XM_011536766.1:c.4161C>T XP_011535068.1:p.Gly1387=
XM_011536767.1:c.4137C>T XP_011535069.1:p.Gly1379=