Canonical Allele Identifier: CA365628415

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129802571G>T (hg19) ; chr6:g.129481426G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129481426G>T , CM000668.2:g.129481426G>T	GRCh38
NC_000006.11:g.129802571G>T , CM000668.1:g.129802571G>T	GRCh37
NC_000006.10:g.129844264G>T	NCBI36
NG_008678.1:g.603286G>T , LRG_409:g.603286G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7724G>T	ENSP00000481744.2:p.Arg2575Met
ENST00000618192.5:c.8000G>T	ENSP00000480802.2:p.Arg2667Met
ENST00000421865.3:c.7736G>T MANE Select	ENSP00000400365.2:p.Arg2579Met
ENST00000421865.2:c.7736G>T	ENSP00000400365.2:p.Arg2579Met
ENST00000617695.4:c.7724G>T	ENSP00000481744.1:p.Arg2575Met
ENST00000618192.4:c.7733G>T	ENSP00000480802.1:p.Arg2578Met
NM_000426.3:c.7736G>T , LRG_409t1:c.7736G>T	NP_000417.2:p.Arg2579Met
NM_001079823.1:c.7724G>T	NP_001073291.1:p.Arg2575Met
XM_005266981.2:c.8000G>T	XP_005267038.1:p.Arg2667Met
XM_005266982.2:c.7988G>T	XP_005267039.1:p.Arg2663Met
XM_011535820.1:c.7994G>T	XP_011534122.1:p.Arg2665Met
XM_005266981.3:c.8000G>T	XP_005267038.1:p.Arg2667Met
XM_005266982.3:c.7988G>T	XP_005267039.1:p.Arg2663Met
XM_011535820.2:c.7994G>T	XP_011534122.1:p.Arg2665Met
XM_017010851.2:c.8006G>T	XP_016866340.1:p.Arg2669Met
XM_017010852.1:c.6131G>T	XP_016866341.1:p.Arg2044Met
NM_000426.4:c.7736G>T MANE Select	NP_000417.3:p.Arg2579Met
NM_001079823.2:c.7724G>T	NP_001073291.2:p.Arg2575Met