Canonical Allele Identifier: CA2739266103

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 2813965
• ClinVar RCV Id: RCV003735166

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129342365_129342383dup , CM000668.2:g.129342365_129342383dup	GRCh38
NC_000006.11:g.129663510_129663528dup , CM000668.1:g.129663510_129663528dup	GRCh37
NC_000006.10:g.129705203_129705221dup	NCBI36
NG_008678.1:g.464225_464243dup , LRG_409:g.464225_464243dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.4334_4352dup	ENSP00000481744.2:p.Cys1451TrpfsTer2
ENST00000618192.5:c.4598_4616dup	ENSP00000480802.2:p.Cys1539TrpfsTer2
ENST00000421865.3:c.4334_4352dup MANE Select	ENSP00000400365.2:p.Cys1451TrpfsTer2
ENST00000421865.2:c.4334_4352dup	ENSP00000400365.2:p.Cys1451TrpfsTer2
ENST00000617695.4:c.4334_4352dup	ENSP00000481744.1:p.Cys1451TrpfsTer2
ENST00000618192.4:c.4334_4352dup	ENSP00000480802.1:p.Cys1451TrpfsTer2
NM_000426.3:c.4334_4352dup , LRG_409t1:c.4334_4352dup	NP_000417.2:p.Cys1451TrpfsTer2
NM_001079823.1:c.4334_4352dup	NP_001073291.1:p.Cys1451TrpfsTer2
XM_005266981.2:c.4598_4616dup	XP_005267038.1:p.Cys1539TrpfsTer2
XM_005266982.2:c.4598_4616dup	XP_005267039.1:p.Cys1539TrpfsTer2
XM_011535820.1:c.4598_4616dup	XP_011534122.1:p.Cys1539TrpfsTer2
XM_005266981.3:c.4598_4616dup	XP_005267038.1:p.Cys1539TrpfsTer2
XM_005266982.3:c.4598_4616dup	XP_005267039.1:p.Cys1539TrpfsTer2
XM_011535820.2:c.4598_4616dup	XP_011534122.1:p.Cys1539TrpfsTer2
XM_017010851.2:c.4604_4622dup	XP_016866340.1:p.Cys1541TrpfsTer2
XM_017010852.1:c.2729_2747dup	XP_016866341.1:p.Cys916TrpfsTer2
XM_017010853.1:c.4598_4616dup	XP_016866342.1:p.Cys1539TrpfsTer2
NM_000426.4:c.4334_4352dup MANE Select	NP_000417.3:p.Cys1451TrpfsTer2
NM_001079823.2:c.4334_4352dup	NP_001073291.2:p.Cys1451TrpfsTer2