Canonical Allele Identifier: CA390384687

Gene: LTBP2

Linked Data

• MyVariant Identifiers: chr14:g.74970023C>A (hg19) ; chr14:g.74503320C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74503320C>A , CM000676.2:g.74503320C>A	GRCh38
NC_000014.8:g.74970023C>A , CM000676.1:g.74970023C>A	GRCh37
NC_000014.7:g.74039776C>A	NCBI36
NG_021486.1:g.114012G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.4787G>T MANE Select	ENSP00000261978.4:p.Ser1596Ile
ENST00000261978.8:c.4787G>T	ENSP00000261978.4:p.Ser1596Ile
ENST00000553939.5:c.4787G>T	ENSP00000452110.1:p.Ser1596Ile
ENST00000556690.5:c.4655G>T	ENSP00000451477.1:p.Ser1552Ile
NM_000428.2:c.4787G>T	NP_000419.1:p.Ser1596Ile
XM_011536765.1:c.4406G>T	XP_011535067.1:p.Ser1469Ile
XM_011536766.1:c.4328G>T	XP_011535068.1:p.Ser1443Ile
XM_011536767.1:c.4304G>T	XP_011535069.1:p.Ser1435Ile
XM_011536765.2:c.4406G>T	XP_011535067.1:p.Ser1469Ile
NM_000428.3:c.4787G>T MANE Select	NP_000419.1:p.Ser1596Ile