Canonical Allele Identifier: CA390384821

Gene: LTBP2

Linked Data

• dbSNP Id: rs2139687565
• MyVariant Identifiers: chr14:g.74970057T>C (hg19) ; chr14:g.74503354T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74503354T>C , CM000676.2:g.74503354T>C	GRCh38
NC_000014.8:g.74970057T>C , CM000676.1:g.74970057T>C	GRCh37
NC_000014.7:g.74039810T>C	NCBI36
NG_021486.1:g.113978A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.4753A>G MANE Select	ENSP00000261978.4:p.Ile1585Val
ENST00000261978.8:c.4753A>G	ENSP00000261978.4:p.Ile1585Val
ENST00000553939.5:c.4753A>G	ENSP00000452110.1:p.Ile1585Val
ENST00000556690.5:c.4621A>G	ENSP00000451477.1:p.Ile1541Val
NM_000428.2:c.4753A>G	NP_000419.1:p.Ile1585Val
XM_011536765.1:c.4372A>G	XP_011535067.1:p.Ile1458Val
XM_011536766.1:c.4294A>G	XP_011535068.1:p.Ile1432Val
XM_011536767.1:c.4270A>G	XP_011535069.1:p.Ile1424Val
XM_011536765.2:c.4372A>G	XP_011535067.1:p.Ile1458Val
NM_000428.3:c.4753A>G MANE Select	NP_000419.1:p.Ile1585Val