Canonical Allele Identifier: CA390384965

Gene: LTBP2

Linked Data

• gnomAD v4: 14-74503471-G-T
• MyVariant Identifiers: chr14:g.74970174G>T (hg19) ; chr14:g.74503471G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74503471G>T , CM000676.2:g.74503471G>T	GRCh38
NC_000014.8:g.74970174G>T , CM000676.1:g.74970174G>T	GRCh37
NC_000014.7:g.74039927G>T	NCBI36
NG_021486.1:g.113861C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.4718C>A MANE Select	ENSP00000261978.4:p.Thr1573Lys
ENST00000261978.8:c.4718C>A	ENSP00000261978.4:p.Thr1573Lys
ENST00000553939.5:c.4718C>A	ENSP00000452110.1:p.Thr1573Lys
ENST00000556690.5:c.4586C>A	ENSP00000451477.1:p.Thr1529Lys
NM_000428.2:c.4718C>A	NP_000419.1:p.Thr1573Lys
XM_011536765.1:c.4337C>A	XP_011535067.1:p.Thr1446Lys
XM_011536766.1:c.4259C>A	XP_011535068.1:p.Thr1420Lys
XM_011536767.1:c.4235C>A	XP_011535069.1:p.Thr1412Lys
XM_011536765.2:c.4337C>A	XP_011535067.1:p.Thr1446Lys
NM_000428.3:c.4718C>A MANE Select	NP_000419.1:p.Thr1573Lys