Canonical Allele Identifier: CA375402490

Gene: ADAMTSL2

Linked Data

• MyVariant Identifiers: chr9:g.136404936T>G (hg19) ; chr9:g.133539814T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133539814T>G , CM000671.2:g.133539814T>G	GRCh38
NC_000009.11:g.136404936T>G , CM000671.1:g.136404936T>G	GRCh37
NC_000009.10:g.135394757T>G	NCBI36
NG_009931.1:g.12651T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000651351.2:c.353T>G MANE Select	ENSP00000498961.2:p.Val118Gly
ENST00000354484.8:c.353T>G	ENSP00000346478.4:p.Val118Gly
ENST00000393060.1:c.353T>G	ENSP00000376780.1:p.Val118Gly
ENST00000393061.7:c.680T>G	ENSP00000376781.3:p.Val227Gly
NM_001145320.1:c.353T>G	NP_001138792.1:p.Val118Gly
NM_014694.3:c.353T>G	NP_055509.2:p.Val118Gly
XM_005272237.2:c.680T>G	XP_005272294.1:p.Val227Gly
XM_005272238.2:c.388T>G	XP_005272295.1:p.Ser130Ala
XM_005272239.2:c.353T>G	XP_005272296.1:p.Val118Gly
XM_006717337.2:c.353T>G	XP_006717400.1:p.Val118Gly
XM_011519241.1:c.241T>G	XP_011517543.1:p.Ser81Ala
XM_011519242.1:c.419T>G	XP_011517544.1:p.Val140Gly
XM_005272237.3:c.680T>G	XP_005272294.1:p.Val227Gly
XM_005272238.3:c.388T>G	XP_005272295.1:p.Ser130Ala
XM_011519241.2:c.568T>G	XP_011517543.2:p.Ser190Ala
XM_011519242.3:c.419T>G	XP_011517544.1:p.Val140Gly
NM_014694.4:c.353T>G MANE Select	NP_055509.2:p.Val118Gly
NM_001145320.2:c.353T>G	NP_001138792.1:p.Val118Gly