Canonical Allele Identifier: CA390384717

Gene: LTBP2

Linked Data

• MyVariant Identifiers: chr14:g.74970030C>A (hg19) ; chr14:g.74503327C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74503327C>A , CM000676.2:g.74503327C>A	GRCh38
NC_000014.8:g.74970030C>A , CM000676.1:g.74970030C>A	GRCh37
NC_000014.7:g.74039783C>A	NCBI36
NG_021486.1:g.114005G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.4780G>T MANE Select	ENSP00000261978.4:p.Val1594Leu
ENST00000261978.8:c.4780G>T	ENSP00000261978.4:p.Val1594Leu
ENST00000553939.5:c.4780G>T	ENSP00000452110.1:p.Val1594Leu
ENST00000556690.5:c.4648G>T	ENSP00000451477.1:p.Val1550Leu
NM_000428.2:c.4780G>T	NP_000419.1:p.Val1594Leu
XM_011536765.1:c.4399G>T	XP_011535067.1:p.Val1467Leu
XM_011536766.1:c.4321G>T	XP_011535068.1:p.Val1441Leu
XM_011536767.1:c.4297G>T	XP_011535069.1:p.Val1433Leu
XM_011536765.2:c.4399G>T	XP_011535067.1:p.Val1467Leu
NM_000428.3:c.4780G>T MANE Select	NP_000419.1:p.Val1594Leu