Canonical Allele Identifier: CA3994679

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129486592A>C , CM000668.2:g.129486592A>C	GRCh38
NC_000006.11:g.129807737A>C , CM000668.1:g.129807737A>C	GRCh37
NC_000006.10:g.129849430A>C	NCBI36
NG_008678.1:g.608452A>C , LRG_409:g.608452A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.7868A>C MANE Select	NP_000417.3:p.Glu2623Ala
ENST00000421865.3:c.7868A>C MANE Select	ENSP00000400365.2:p.Glu2623Ala
NM_000426.3:c.7868A>C , LRG_409t1:c.7868A>C	NP_000417.2:p.Glu2623Ala
NM_001079823.1:c.7856A>C	NP_001073291.1:p.Glu2619Ala
NM_001079823.2:c.7856A>C	NP_001073291.2:p.Glu2619Ala
ENST00000421865.2:c.7868A>C	ENSP00000400365.2:p.Glu2623Ala
ENST00000617695.4:c.7856A>C	ENSP00000481744.1:p.Glu2619Ala
ENST00000617695.5:c.7856A>C	ENSP00000481744.2:p.Glu2619Ala
ENST00000618192.4:c.7865A>C	ENSP00000480802.1:p.Glu2622Ala
ENST00000618192.5:c.8132A>C	ENSP00000480802.2:p.Glu2711Ala
ENST00000688198.1:n.846A>C
XM_005266981.2:c.8132A>C	XP_005267038.1:p.Glu2711Ala
XM_005266981.3:c.8132A>C	XP_005267038.1:p.Glu2711Ala
XM_005266982.2:c.8120A>C	XP_005267039.1:p.Glu2707Ala
XM_005266982.3:c.8120A>C	XP_005267039.1:p.Glu2707Ala
XM_011535820.1:c.8126A>C	XP_011534122.1:p.Glu2709Ala
XM_011535820.2:c.8126A>C	XP_011534122.1:p.Glu2709Ala
XM_017010851.2:c.8138A>C	XP_016866340.1:p.Glu2713Ala
XM_017010852.1:c.6263A>C	XP_016866341.1:p.Glu2088Ala