Canonical Allele Identifier: CA451934114

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 2417156
• ClinVar RCV Id: RCV003111984
• MyVariant Identifiers: chr6:g.129802572G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129481427G>A , CM000668.2:g.129481427G>A	GRCh38
NC_000006.11:g.129802572G>A , CM000668.1:g.129802572G>A	GRCh37
NC_000006.10:g.129844265G>A	NCBI36
NG_008678.1:g.603287G>A , LRG_409:g.603287G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7725G>A	ENSP00000481744.2:p.Arg2575=
ENST00000618192.5:c.8001G>A	ENSP00000480802.2:p.Arg2667=
ENST00000421865.3:c.7737G>A MANE Select	ENSP00000400365.2:p.Arg2579=
ENST00000421865.2:c.7737G>A	ENSP00000400365.2:p.Arg2579=
ENST00000617695.4:c.7725G>A	ENSP00000481744.1:p.Arg2575=
ENST00000618192.4:c.7734G>A	ENSP00000480802.1:p.Arg2578=
NM_000426.3:c.7737G>A , LRG_409t1:c.7737G>A	NP_000417.2:p.Arg2579=
NM_001079823.1:c.7725G>A	NP_001073291.1:p.Arg2575=
XM_005266981.2:c.8001G>A	XP_005267038.1:p.Arg2667=
XM_005266982.2:c.7989G>A	XP_005267039.1:p.Arg2663=
XM_011535820.1:c.7995G>A	XP_011534122.1:p.Arg2665=
XM_005266981.3:c.8001G>A	XP_005267038.1:p.Arg2667=
XM_005266982.3:c.7989G>A	XP_005267039.1:p.Arg2663=
XM_011535820.2:c.7995G>A	XP_011534122.1:p.Arg2665=
XM_017010851.2:c.8007G>A	XP_016866340.1:p.Arg2669=
XM_017010852.1:c.6132G>A	XP_016866341.1:p.Arg2044=
NM_000426.4:c.7737G>A MANE Select	NP_000417.3:p.Arg2579=
NM_001079823.2:c.7725G>A	NP_001073291.2:p.Arg2575=