Canonical Allele Identifier: CA365628243

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129802528T>A (hg19) ; chr6:g.129481383T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129481383T>A , CM000668.2:g.129481383T>A	GRCh38
NC_000006.11:g.129802528T>A , CM000668.1:g.129802528T>A	GRCh37
NC_000006.10:g.129844221T>A	NCBI36
NG_008678.1:g.603243T>A , LRG_409:g.603243T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7681T>A	ENSP00000481744.2:p.Leu2561Met
ENST00000618192.5:c.7957T>A	ENSP00000480802.2:p.Leu2653Met
ENST00000421865.3:c.7693T>A MANE Select	ENSP00000400365.2:p.Leu2565Met
ENST00000421865.2:c.7693T>A	ENSP00000400365.2:p.Leu2565Met
ENST00000617695.4:c.7681T>A	ENSP00000481744.1:p.Leu2561Met
ENST00000618192.4:c.7690T>A	ENSP00000480802.1:p.Leu2564Met
NM_000426.3:c.7693T>A , LRG_409t1:c.7693T>A	NP_000417.2:p.Leu2565Met
NM_001079823.1:c.7681T>A	NP_001073291.1:p.Leu2561Met
XM_005266981.2:c.7957T>A	XP_005267038.1:p.Leu2653Met
XM_005266982.2:c.7945T>A	XP_005267039.1:p.Leu2649Met
XM_011535820.1:c.7951T>A	XP_011534122.1:p.Leu2651Met
XM_005266981.3:c.7957T>A	XP_005267038.1:p.Leu2653Met
XM_005266982.3:c.7945T>A	XP_005267039.1:p.Leu2649Met
XM_011535820.2:c.7951T>A	XP_011534122.1:p.Leu2651Met
XM_017010851.2:c.7963T>A	XP_016866340.1:p.Leu2655Met
XM_017010852.1:c.6088T>A	XP_016866341.1:p.Leu2030Met
NM_000426.4:c.7693T>A MANE Select	NP_000417.3:p.Leu2565Met
NM_001079823.2:c.7681T>A	NP_001073291.2:p.Leu2561Met