Canonical Allele Identifier: CA365626649

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129478759C>A , CM000668.2:g.129478759C>A	GRCh38
NC_000006.11:g.129799904C>A , CM000668.1:g.129799904C>A	GRCh37
NC_000006.10:g.129841597C>A	NCBI36
NG_008678.1:g.600619C>A , LRG_409:g.600619C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.7518C>A MANE Select	NP_000417.3:p.Tyr2506Ter
ENST00000421865.3:c.7518C>A MANE Select	ENSP00000400365.2:p.Tyr2506Ter
NM_000426.3:c.7518C>A , LRG_409t1:c.7518C>A	NP_000417.2:p.Tyr2506Ter
NM_001079823.1:c.7506C>A	NP_001073291.1:p.Tyr2502Ter
NM_001079823.2:c.7506C>A	NP_001073291.2:p.Tyr2502Ter
ENST00000421865.2:c.7518C>A	ENSP00000400365.2:p.Tyr2506Ter
ENST00000617695.4:c.7506C>A	ENSP00000481744.1:p.Tyr2502Ter
ENST00000617695.5:c.7506C>A	ENSP00000481744.2:p.Tyr2502Ter
ENST00000618192.4:c.7515C>A	ENSP00000480802.1:p.Tyr2505Ter
ENST00000618192.5:c.7782C>A	ENSP00000480802.2:p.Tyr2594Ter
XM_005266981.2:c.7782C>A	XP_005267038.1:p.Tyr2594Ter
XM_005266981.3:c.7782C>A	XP_005267038.1:p.Tyr2594Ter
XM_005266982.2:c.7770C>A	XP_005267039.1:p.Tyr2590Ter
XM_005266982.3:c.7770C>A	XP_005267039.1:p.Tyr2590Ter
XM_011535820.1:c.7776C>A	XP_011534122.1:p.Tyr2592Ter
XM_011535820.2:c.7776C>A	XP_011534122.1:p.Tyr2592Ter
XM_017010851.2:c.7788C>A	XP_016866340.1:p.Tyr2596Ter
XM_017010852.1:c.5913C>A	XP_016866341.1:p.Tyr1971Ter