Canonical Allele Identifier: CA146127

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 92962
• ClinVar RCV Id: RCV000078773 ; RCV000547817 ; RCV001153954 ; RCV001699199
• dbSNP Id: rs117781224
• ExAC: 6:129687396 G / A
• gnomAD v2: 6-129687396-G-A
• gnomAD v3: 6-129366251-G-A
• gnomAD v4: 6-129366251-G-A
• MyVariant Identifiers: chr6:g.129687396G>A (hg19) ; chr6:g.129366251G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129366251G>A , CM000668.2:g.129366251G>A	GRCh38
NC_000006.11:g.129687396G>A , CM000668.1:g.129687396G>A	GRCh37
NC_000006.10:g.129729089G>A	NCBI36
NG_008678.1:g.488111G>A , LRG_409:g.488111G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.4750G>A	ENSP00000481744.2:p.Gly1584Ser
ENST00000618192.5:c.5014G>A	ENSP00000480802.2:p.Gly1672Ser
ENST00000687590.1:n.1170G>A
ENST00000693425.1:n.276G>A
ENST00000421865.3:c.4750G>A MANE Select	ENSP00000400365.2:p.Gly1584Ser
ENST00000421865.2:c.4750G>A	ENSP00000400365.2:p.Gly1584Ser
ENST00000617695.4:c.4750G>A	ENSP00000481744.1:p.Gly1584Ser
ENST00000618192.4:c.4750G>A	ENSP00000480802.1:p.Gly1584Ser
NM_000426.3:c.4750G>A , LRG_409t1:c.4750G>A	NP_000417.2:p.Gly1584Ser
NM_001079823.1:c.4750G>A	NP_001073291.1:p.Gly1584Ser
XM_005266981.2:c.5014G>A	XP_005267038.1:p.Gly1672Ser
XM_005266982.2:c.5014G>A	XP_005267039.1:p.Gly1672Ser
XM_011535820.1:c.5014G>A	XP_011534122.1:p.Gly1672Ser
XM_005266981.3:c.5014G>A	XP_005267038.1:p.Gly1672Ser
XM_005266982.3:c.5014G>A	XP_005267039.1:p.Gly1672Ser
XM_011535820.2:c.5014G>A	XP_011534122.1:p.Gly1672Ser
XM_017010851.2:c.5020G>A	XP_016866340.1:p.Gly1674Ser
XM_017010852.1:c.3145G>A	XP_016866341.1:p.Gly1049Ser
XM_017010853.1:c.5014G>A	XP_016866342.1:p.Gly1672Ser
NM_000426.4:c.4750G>A MANE Select	NP_000417.3:p.Gly1584Ser
NM_001079823.2:c.4750G>A	NP_001073291.2:p.Gly1584Ser