Canonical Allele Identifier: CA390382153

Gene: LTBP2

Linked Data

• MyVariant Identifiers: chr14:g.74967727T>C (hg19) ; chr14:g.74501024T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74501024T>C , CM000676.2:g.74501024T>C	GRCh38
NC_000014.8:g.74967727T>C , CM000676.1:g.74967727T>C	GRCh37
NC_000014.7:g.74037480T>C	NCBI36
NG_021486.1:g.116308A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.5326A>G MANE Select	ENSP00000261978.4:p.Asn1776Asp
ENST00000261978.8:c.5326A>G	ENSP00000261978.4:p.Asn1776Asp
ENST00000553939.5:c.*105A>G	ENSP00000452110.1:n.*105A>G
ENST00000554861.1:n.544A>G
ENST00000556690.5:c.5194A>G	ENSP00000451477.1:p.Asn1732Asp
NM_000428.2:c.5326A>G	NP_000419.1:p.Asn1776Asp
XM_011536765.1:c.4945A>G	XP_011535067.1:p.Asn1649Asp
XM_011536766.1:c.4867A>G	XP_011535068.1:p.Asn1623Asp
XM_011536767.1:c.4843A>G	XP_011535069.1:p.Asn1615Asp
XM_011536765.2:c.4945A>G	XP_011535067.1:p.Asn1649Asp
NM_000428.3:c.5326A>G MANE Select	NP_000419.1:p.Asn1776Asp