Canonical Allele Identifier: CA658657620

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 477508
• ClinVar RCV Id: RCV000560143
• dbSNP Id: rs1554305937
• MyVariant Identifiers: chr6:g.129802545_129802546insG (hg19) ; chr6:g.129481400_129481401insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129481400_129481401insG , CM000668.2:g.129481400_129481401insG	GRCh38
NC_000006.11:g.129802545_129802546insG , CM000668.1:g.129802545_129802546insG	GRCh37
NC_000006.10:g.129844238_129844239insG	NCBI36
NG_008678.1:g.603260_603261insG , LRG_409:g.603260_603261insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7698_7699insG	ENSP00000481744.2:p.Pro2567AlafsTer5
ENST00000618192.5:c.7974_7975insG	ENSP00000480802.2:p.Pro2659AlafsTer5
ENST00000421865.3:c.7710_7711insG MANE Select	ENSP00000400365.2:p.Pro2571AlafsTer5
ENST00000421865.2:c.7710_7711insG	ENSP00000400365.2:p.Pro2571AlafsTer5
ENST00000617695.4:c.7698_7699insG	ENSP00000481744.1:p.Pro2567AlafsTer5
ENST00000618192.4:c.7707_7708insG	ENSP00000480802.1:p.Pro2570AlafsTer5
NM_000426.3:c.7710_7711insG , LRG_409t1:c.7710_7711insG	NP_000417.2:p.Pro2571AlafsTer5
NM_001079823.1:c.7698_7699insG	NP_001073291.1:p.Pro2567AlafsTer5
XM_005266981.2:c.7974_7975insG	XP_005267038.1:p.Pro2659AlafsTer5
XM_005266982.2:c.7962_7963insG	XP_005267039.1:p.Pro2655AlafsTer5
XM_011535820.1:c.7968_7969insG	XP_011534122.1:p.Pro2657AlafsTer5
XM_005266981.3:c.7974_7975insG	XP_005267038.1:p.Pro2659AlafsTer5
XM_005266982.3:c.7962_7963insG	XP_005267039.1:p.Pro2655AlafsTer5
XM_011535820.2:c.7968_7969insG	XP_011534122.1:p.Pro2657AlafsTer5
XM_017010851.2:c.7980_7981insG	XP_016866340.1:p.Pro2661AlafsTer5
XM_017010852.1:c.6105_6106insG	XP_016866341.1:p.Pro2036AlafsTer5
NM_000426.4:c.7710_7711insG MANE Select	NP_000417.3:p.Pro2571AlafsTer5
NM_001079823.2:c.7698_7699insG	NP_001073291.2:p.Pro2567AlafsTer5