Canonical Allele Identifier: CA263579506

Gene: LTBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74503995T>C , CM000676.2:g.74503995T>C	GRCh38
NC_000014.8:g.74970698T>C , CM000676.1:g.74970698T>C	GRCh37
NC_000014.7:g.74040451T>C	NCBI36
NG_021486.1:g.113337A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000428.3:c.4513A>G MANE Select	NP_000419.1:p.Thr1505Ala
ENST00000261978.9:c.4513A>G MANE Select	ENSP00000261978.4:p.Thr1505Ala
NM_000428.2:c.4513A>G	NP_000419.1:p.Thr1505Ala
ENST00000261978.8:c.4513A>G	ENSP00000261978.4:p.Thr1505Ala
ENST00000553939.5:c.4513A>G	ENSP00000452110.1:p.Thr1505Ala
ENST00000556690.5:c.4381A>G	ENSP00000451477.1:p.Thr1461Ala
XM_011536765.1:c.4132A>G	XP_011535067.1:p.Thr1378Ala
XM_011536765.2:c.4132A>G	XP_011535067.1:p.Thr1378Ala
XM_011536766.1:c.4054A>G	XP_011535068.1:p.Thr1352Ala
XM_011536767.1:c.4030A>G	XP_011535069.1:p.Thr1344Ala