Canonical Allele Identifier: CA390384843

Gene: LTBP2

Linked Data

• dbSNP Id: rs1566612035
• gnomAD v4: 14-74503359-A-G
• MyVariant Identifiers: chr14:g.74970062A>G (hg19) ; chr14:g.74503359A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74503359A>G , CM000676.2:g.74503359A>G	GRCh38
NC_000014.8:g.74970062A>G , CM000676.1:g.74970062A>G	GRCh37
NC_000014.7:g.74039815A>G	NCBI36
NG_021486.1:g.113973T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.4748T>C MANE Select	ENSP00000261978.4:p.Met1583Thr
ENST00000261978.8:c.4748T>C	ENSP00000261978.4:p.Met1583Thr
ENST00000553939.5:c.4748T>C	ENSP00000452110.1:p.Met1583Thr
ENST00000556690.5:c.4616T>C	ENSP00000451477.1:p.Met1539Thr
NM_000428.2:c.4748T>C	NP_000419.1:p.Met1583Thr
XM_011536765.1:c.4367T>C	XP_011535067.1:p.Met1456Thr
XM_011536766.1:c.4289T>C	XP_011535068.1:p.Met1430Thr
XM_011536767.1:c.4265T>C	XP_011535069.1:p.Met1422Thr
XM_011536765.2:c.4367T>C	XP_011535067.1:p.Met1456Thr
NM_000428.3:c.4748T>C MANE Select	NP_000419.1:p.Met1583Thr