Canonical Allele Identifier: CA3994424

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129464337G>T , CM000668.2:g.129464337G>T	GRCh38
NC_000006.11:g.129785482G>T , CM000668.1:g.129785482G>T	GRCh37
NC_000006.10:g.129827175G>T	NCBI36
NG_008678.1:g.586197G>T , LRG_409:g.586197G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.7040G>T MANE Select	NP_000417.3:p.Gly2347Val
ENST00000421865.3:c.7040G>T MANE Select	ENSP00000400365.2:p.Gly2347Val
NM_000426.3:c.7040G>T , LRG_409t1:c.7040G>T	NP_000417.2:p.Gly2347Val
NM_001079823.1:c.7040G>T	NP_001073291.1:p.Gly2347Val
NM_001079823.2:c.7040G>T	NP_001073291.2:p.Gly2347Val
ENST00000421865.2:c.7040G>T	ENSP00000400365.2:p.Gly2347Val
ENST00000617695.4:c.7040G>T	ENSP00000481744.1:p.Gly2347Val
ENST00000617695.5:c.7040G>T	ENSP00000481744.2:p.Gly2347Val
ENST00000618192.4:c.7037G>T	ENSP00000480802.1:p.Gly2346Val
ENST00000618192.5:c.7304G>T	ENSP00000480802.2:p.Gly2435Val
ENST00000684985.1:n.671G>T
ENST00000688150.1:n.379G>T
XM_005266981.2:c.7304G>T	XP_005267038.1:p.Gly2435Val
XM_005266981.3:c.7304G>T	XP_005267038.1:p.Gly2435Val
XM_005266982.2:c.7304G>T	XP_005267039.1:p.Gly2435Val
XM_005266982.3:c.7304G>T	XP_005267039.1:p.Gly2435Val
XM_011535820.1:c.7298G>T	XP_011534122.1:p.Gly2433Val
XM_011535820.2:c.7298G>T	XP_011534122.1:p.Gly2433Val
XM_017010851.2:c.7310G>T	XP_016866340.1:p.Gly2437Val
XM_017010852.1:c.5435G>T	XP_016866341.1:p.Gly1812Val