Canonical Allele Identifier: CA3994681

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129486599C>T , CM000668.2:g.129486599C>T	GRCh38
NC_000006.11:g.129807744C>T , CM000668.1:g.129807744C>T	GRCh37
NC_000006.10:g.129849437C>T	NCBI36
NG_008678.1:g.608459C>T , LRG_409:g.608459C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.7875C>T MANE Select	NP_000417.3:p.Ser2625=
ENST00000421865.3:c.7875C>T MANE Select	ENSP00000400365.2:p.Ser2625=
NM_000426.3:c.7875C>T , LRG_409t1:c.7875C>T	NP_000417.2:p.Ser2625=
NM_001079823.1:c.7863C>T	NP_001073291.1:p.Ser2621=
NM_001079823.2:c.7863C>T	NP_001073291.2:p.Ser2621=
ENST00000421865.2:c.7875C>T	ENSP00000400365.2:p.Ser2625=
ENST00000617695.4:c.7863C>T	ENSP00000481744.1:p.Ser2621=
ENST00000617695.5:c.7863C>T	ENSP00000481744.2:p.Ser2621=
ENST00000618192.4:c.7872C>T	ENSP00000480802.1:p.Ser2624=
ENST00000618192.5:c.8139C>T	ENSP00000480802.2:p.Ser2713=
ENST00000688198.1:n.853C>T
XM_005266981.2:c.8139C>T	XP_005267038.1:p.Ser2713=
XM_005266981.3:c.8139C>T	XP_005267038.1:p.Ser2713=
XM_005266982.2:c.8127C>T	XP_005267039.1:p.Ser2709=
XM_005266982.3:c.8127C>T	XP_005267039.1:p.Ser2709=
XM_011535820.1:c.8133C>T	XP_011534122.1:p.Ser2711=
XM_011535820.2:c.8133C>T	XP_011534122.1:p.Ser2711=
XM_017010851.2:c.8145C>T	XP_016866340.1:p.Ser2715=
XM_017010852.1:c.6270C>T	XP_016866341.1:p.Ser2090=