Canonical Allele Identifier: CA365829310

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 432590
• ClinVar RCV Id: RCV000498283 ; RCV000792131
• dbSNP Id: rs1554217596
• MyVariant Identifiers: chr6:g.129419446G>C (hg19) ; chr6:g.129098301G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129098301G>C , CM000668.2:g.129098301G>C	GRCh38
NC_000006.11:g.129419446G>C , CM000668.1:g.129419446G>C	GRCh37
NC_000006.10:g.129461139G>C	NCBI36
NG_008678.1:g.220161G>C , LRG_409:g.220161G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.525G>C	ENSP00000481744.2:p.Glu175Asp
ENST00000618192.5:c.525G>C	ENSP00000480802.2:p.Glu175Asp
ENST00000686577.1:n.591G>C
ENST00000686599.1:n.630G>C
ENST00000689044.1:n.415G>C
ENST00000421865.3:c.525G>C MANE Select	ENSP00000400365.2:p.Glu175Asp
ENST00000421865.2:c.525G>C	ENSP00000400365.2:p.Glu175Asp
ENST00000617695.4:c.525G>C	ENSP00000481744.1:p.Glu175Asp
ENST00000618192.4:c.525G>C	ENSP00000480802.1:p.Glu175Asp
NM_000426.3:c.525G>C , LRG_409t1:c.525G>C	NP_000417.2:p.Glu175Asp
NM_001079823.1:c.525G>C	NP_001073291.1:p.Glu175Asp
XM_005266981.2:c.525G>C	XP_005267038.1:p.Glu175Asp
XM_005266982.2:c.525G>C	XP_005267039.1:p.Glu175Asp
XM_011535820.1:c.525G>C	XP_011534122.1:p.Glu175Asp
XM_005266981.3:c.525G>C	XP_005267038.1:p.Glu175Asp
XM_005266982.3:c.525G>C	XP_005267039.1:p.Glu175Asp
XM_011535820.2:c.525G>C	XP_011534122.1:p.Glu175Asp
XM_017010851.2:c.531G>C	XP_016866340.1:p.Glu177Asp
XM_017010853.1:c.525G>C	XP_016866342.1:p.Glu175Asp
NM_000426.4:c.525G>C MANE Select	NP_000417.3:p.Glu175Asp
NM_001079823.2:c.525G>C	NP_001073291.2:p.Glu175Asp