Canonical Allele Identifier: CA487267169

Gene: LTBP2

Linked Data

• MyVariant Identifiers: chr14:g.74970082G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74503379G>T , CM000676.2:g.74503379G>T	GRCh38
NC_000014.8:g.74970082G>T , CM000676.1:g.74970082G>T	GRCh37
NC_000014.7:g.74039835G>T	NCBI36
NG_021486.1:g.113953C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.4728C>A MANE Select	ENSP00000261978.4:p.Leu1576=
ENST00000261978.8:c.4728C>A	ENSP00000261978.4:p.Leu1576=
ENST00000553939.5:c.4728C>A	ENSP00000452110.1:p.Leu1576=
ENST00000556690.5:c.4596C>A	ENSP00000451477.1:p.Leu1532=
NM_000428.2:c.4728C>A	NP_000419.1:p.Leu1576=
XM_011536765.1:c.4347C>A	XP_011535067.1:p.Leu1449=
XM_011536766.1:c.4269C>A	XP_011535068.1:p.Leu1423=
XM_011536767.1:c.4245C>A	XP_011535069.1:p.Leu1415=
XM_011536765.2:c.4347C>A	XP_011535067.1:p.Leu1449=
NM_000428.3:c.4728C>A MANE Select	NP_000419.1:p.Leu1576=