Canonical Allele Identifier: CA365617542

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129349365G>T , CM000668.2:g.129349365G>T	GRCh38
NC_000006.11:g.129670510G>T , CM000668.1:g.129670510G>T	GRCh37
NC_000006.10:g.129712203G>T	NCBI36
NG_008678.1:g.471225G>T , LRG_409:g.471225G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.4504G>T MANE Select	NP_000417.3:p.Glu1502Ter
ENST00000421865.3:c.4504G>T MANE Select	ENSP00000400365.2:p.Glu1502Ter
NM_000426.3:c.4504G>T , LRG_409t1:c.4504G>T	NP_000417.2:p.Glu1502Ter
NM_001079823.1:c.4504G>T	NP_001073291.1:p.Glu1502Ter
NM_001079823.2:c.4504G>T	NP_001073291.2:p.Glu1502Ter
ENST00000421865.2:c.4504G>T	ENSP00000400365.2:p.Glu1502Ter
ENST00000617695.4:c.4504G>T	ENSP00000481744.1:p.Glu1502Ter
ENST00000617695.5:c.4504G>T	ENSP00000481744.2:p.Glu1502Ter
ENST00000618192.4:c.4504G>T	ENSP00000480802.1:p.Glu1502Ter
ENST00000618192.5:c.4768G>T	ENSP00000480802.2:p.Glu1590Ter
ENST00000692206.1:n.153G>T
ENST00000693425.1:n.30G>T
XM_005266981.2:c.4768G>T	XP_005267038.1:p.Glu1590Ter
XM_005266981.3:c.4768G>T	XP_005267038.1:p.Glu1590Ter
XM_005266982.2:c.4768G>T	XP_005267039.1:p.Glu1590Ter
XM_005266982.3:c.4768G>T	XP_005267039.1:p.Glu1590Ter
XM_011535820.1:c.4768G>T	XP_011534122.1:p.Glu1590Ter
XM_011535820.2:c.4768G>T	XP_011534122.1:p.Glu1590Ter
XM_017010851.2:c.4774G>T	XP_016866340.1:p.Glu1592Ter
XM_017010852.1:c.2899G>T	XP_016866341.1:p.Glu967Ter
XM_017010853.1:c.4768G>T	XP_016866342.1:p.Glu1590Ter