Canonical Allele Identifier: CA451926587

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 1086585
• ClinVar RCV Id: RCV001404395
• dbSNP Id: rs1433412551
• gnomAD v2: 6-129670479-C-T
• gnomAD v4: 6-129349334-C-T
• MyVariant Identifiers: chr6:g.129670479C>T (hg19) ; chr6:g.129349334C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129349334C>T , CM000668.2:g.129349334C>T	GRCh38
NC_000006.11:g.129670479C>T , CM000668.1:g.129670479C>T	GRCh37
NC_000006.10:g.129712172C>T	NCBI36
NG_008678.1:g.471194C>T , LRG_409:g.471194C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.4473C>T	ENSP00000481744.2:p.Asp1491=
ENST00000618192.5:c.4737C>T	ENSP00000480802.2:p.Asp1579=
ENST00000692206.1:n.122C>T
ENST00000421865.3:c.4473C>T MANE Select	ENSP00000400365.2:p.Asp1491=
ENST00000421865.2:c.4473C>T	ENSP00000400365.2:p.Asp1491=
ENST00000617695.4:c.4473C>T	ENSP00000481744.1:p.Asp1491=
ENST00000618192.4:c.4473C>T	ENSP00000480802.1:p.Asp1491=
NM_000426.3:c.4473C>T , LRG_409t1:c.4473C>T	NP_000417.2:p.Asp1491=
NM_001079823.1:c.4473C>T	NP_001073291.1:p.Asp1491=
XM_005266981.2:c.4737C>T	XP_005267038.1:p.Asp1579=
XM_005266982.2:c.4737C>T	XP_005267039.1:p.Asp1579=
XM_011535820.1:c.4737C>T	XP_011534122.1:p.Asp1579=
XM_005266981.3:c.4737C>T	XP_005267038.1:p.Asp1579=
XM_005266982.3:c.4737C>T	XP_005267039.1:p.Asp1579=
XM_011535820.2:c.4737C>T	XP_011534122.1:p.Asp1579=
XM_017010851.2:c.4743C>T	XP_016866340.1:p.Asp1581=
XM_017010852.1:c.2868C>T	XP_016866341.1:p.Asp956=
XM_017010853.1:c.4737C>T	XP_016866342.1:p.Asp1579=
NM_000426.4:c.4473C>T MANE Select	NP_000417.3:p.Asp1491=
NM_001079823.2:c.4473C>T	NP_001073291.2:p.Asp1491=