Canonical Allele Identifier: CA375404236

Gene: ADAMTSL2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133540625C>A , CM000671.2:g.133540625C>A	GRCh38
NC_000009.11:g.136405747C>A , CM000671.1:g.136405747C>A	GRCh37
NC_000009.10:g.135395568C>A	NCBI36
NG_009931.1:g.13462C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651351.2:c.440C>A MANE Select	ENSP00000498961.2:p.Pro147Gln
ENST00000354484.8:c.440C>A	ENSP00000346478.4:p.Pro147Gln
ENST00000393060.1:c.440C>A	ENSP00000376780.1:p.Pro147Gln
ENST00000393061.7:c.767C>A	ENSP00000376781.3:p.Pro256Gln
NM_001145320.1:c.440C>A	NP_001138792.1:p.Pro147Gln
NM_014694.3:c.440C>A	NP_055509.2:p.Pro147Gln
XM_005272237.2:c.767C>A	XP_005272294.1:p.Pro256Gln
XM_005272238.2:c.475C>A	XP_005272295.1:p.Arg159Ser
XM_005272239.2:c.440C>A	XP_005272296.1:p.Pro147Gln
XM_006717337.2:c.440C>A	XP_006717400.1:p.Pro147Gln
XM_011519241.1:c.328C>A	XP_011517543.1:p.Arg110Ser
XM_011519242.1:c.506C>A	XP_011517544.1:p.Pro169Gln
XM_005272237.3:c.767C>A	XP_005272294.1:p.Pro256Gln
XM_005272238.3:c.475C>A	XP_005272295.1:p.Arg159Ser
XM_011519241.2:c.655C>A	XP_011517543.2:p.Arg219Ser
XM_011519242.3:c.506C>A	XP_011517544.1:p.Pro169Gln
NM_014694.4:c.440C>A MANE Select	NP_055509.2:p.Pro147Gln
NM_001145320.2:c.440C>A	NP_001138792.1:p.Pro147Gln