Canonical Allele Identifier: CA3994714

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129491987T>C , CM000668.2:g.129491987T>C	GRCh38
NC_000006.11:g.129813132T>C , CM000668.1:g.129813132T>C	GRCh37
NC_000006.10:g.129854825T>C	NCBI36
NG_008678.1:g.613847T>C , LRG_409:g.613847T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.7985T>C MANE Select	NP_000417.3:p.Val2662Ala
ENST00000421865.3:c.7985T>C MANE Select	ENSP00000400365.2:p.Val2662Ala
NM_000426.3:c.7985T>C , LRG_409t1:c.7985T>C	NP_000417.2:p.Val2662Ala
NM_001079823.1:c.7973T>C	NP_001073291.1:p.Val2658Ala
NM_001079823.2:c.7973T>C	NP_001073291.2:p.Val2658Ala
ENST00000421865.2:c.7985T>C	ENSP00000400365.2:p.Val2662Ala
ENST00000494137.1:n.147T>C
ENST00000494137.2:c.50T>C	ENSP00000510626.1:p.Val17Ala
ENST00000498257.5:n.298T>C
ENST00000498257.6:c.50T>C	ENSP00000510533.1:p.Val17Ala
ENST00000617695.4:c.7973T>C	ENSP00000481744.1:p.Val2658Ala
ENST00000617695.5:c.7973T>C	ENSP00000481744.2:p.Val2658Ala
ENST00000618192.4:c.7982T>C	ENSP00000480802.1:p.Val2661Ala
ENST00000618192.5:c.8249T>C	ENSP00000480802.2:p.Val2750Ala
ENST00000688198.1:n.963T>C
ENST00000688799.1:c.50T>C	ENSP00000508458.1:p.Val17Ala
ENST00000690858.1:n.979T>C
XM_005266981.2:c.8249T>C	XP_005267038.1:p.Val2750Ala
XM_005266981.3:c.8249T>C	XP_005267038.1:p.Val2750Ala
XM_005266982.2:c.8237T>C	XP_005267039.1:p.Val2746Ala
XM_005266982.3:c.8237T>C	XP_005267039.1:p.Val2746Ala
XM_011535820.1:c.8243T>C	XP_011534122.1:p.Val2748Ala
XM_011535820.2:c.8243T>C	XP_011534122.1:p.Val2748Ala
XM_017010851.2:c.8255T>C	XP_016866340.1:p.Val2752Ala
XM_017010852.1:c.6380T>C	XP_016866341.1:p.Val2127Ala