Canonical Allele Identifier: CA1663060331

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129250112C= , CM000668.2:g.129250112C=	GRCh38
NC_000006.11:g.129571257C= , CM000668.1:g.129571257C=	GRCh37
NC_000006.10:g.129612950C=	NCBI36
NG_008678.1:g.371972C= , LRG_409:g.371972C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.1783C=	ENSP00000481744.2:p.Leu595=
ENST00000618192.5:c.1783C=	ENSP00000480802.2:p.Leu595=
ENST00000421865.3:c.1783C= MANE Select	ENSP00000400365.2:p.Leu595=
ENST00000421865.2:c.1783C=	ENSP00000400365.2:p.Leu595=
ENST00000617695.4:c.1783C=	ENSP00000481744.1:p.Leu595=
ENST00000618192.4:c.1783C=	ENSP00000480802.1:p.Leu595=
NM_000426.3:c.1783C= , LRG_409t1:c.1783C=	NP_000417.2:p.Leu595=
NM_001079823.1:c.1783C=	NP_001073291.1:p.Leu595=
XM_005266981.2:c.1783C=	XP_005267038.1:p.Leu595=
XM_005266982.2:c.1783C=	XP_005267039.1:p.Leu595=
XM_011535820.1:c.1783C=	XP_011534122.1:p.Leu595=
XM_005266981.3:c.1783C=	XP_005267038.1:p.Leu595=
XM_005266982.3:c.1783C=	XP_005267039.1:p.Leu595=
XM_011535820.2:c.1783C=	XP_011534122.1:p.Leu595=
XM_017010851.2:c.1789C=	XP_016866340.1:p.Leu597=
XM_017010852.1:c.-87C=	XP_016866341.1:n.-87C=
XM_017010853.1:c.1783C=	XP_016866342.1:p.Leu595=
NM_000426.4:c.1783C= MANE Select	NP_000417.3:p.Leu595=
NM_001079823.2:c.1783C=	NP_001073291.2:p.Leu595=