Canonical Allele Identifier: CA365637203

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 1373865
• ClinVar RCV Id: RCV001877534
• dbSNP Id: rs1292208026
• MyVariant Identifiers: chr6:g.129837345G>C (hg19) ; chr6:g.129516200G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129516200G>C , CM000668.2:g.129516200G>C	GRCh38
NC_000006.11:g.129837345G>C , CM000668.1:g.129837345G>C	GRCh37
NC_000006.10:g.129879038G>C	NCBI36
NG_008678.1:g.638060G>C , LRG_409:g.638060G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.1287G>C	ENSP00000510626.1:p.Lys429Asn
ENST00000498257.6:c.1287G>C	ENSP00000510533.1:p.Lys429Asn
ENST00000617695.5:c.9210G>C	ENSP00000481744.2:p.Lys3070Asn
ENST00000618192.5:c.9486G>C	ENSP00000480802.2:p.Lys3162Asn
ENST00000688198.1:n.2200G>C
ENST00000688799.1:c.1287G>C	ENSP00000508458.1:p.Lys429Asn
ENST00000690858.1:n.4095G>C
ENST00000693461.1:n.1559G>C
ENST00000421865.3:c.9222G>C MANE Select	ENSP00000400365.2:p.Lys3074Asn
ENST00000421865.2:c.9222G>C	ENSP00000400365.2:p.Lys3074Asn
ENST00000617695.4:c.9210G>C	ENSP00000481744.1:p.Lys3070Asn
ENST00000618192.4:c.9219G>C	ENSP00000480802.1:p.Lys3073Asn
NM_000426.3:c.9222G>C , LRG_409t1:c.9222G>C	NP_000417.2:p.Lys3074Asn
NM_001079823.1:c.9210G>C	NP_001073291.1:p.Lys3070Asn
XM_005266981.2:c.9486G>C	XP_005267038.1:p.Lys3162Asn
XM_005266982.2:c.9474G>C	XP_005267039.1:p.Lys3158Asn
XM_011535820.1:c.9480G>C	XP_011534122.1:p.Lys3160Asn
XR_942984.1:n.1460+6277C>G
XR_942985.1:n.1324+6277C>G
XM_005266981.3:c.9486G>C	XP_005267038.1:p.Lys3162Asn
XM_005266982.3:c.9474G>C	XP_005267039.1:p.Lys3158Asn
XM_011535820.2:c.9480G>C	XP_011534122.1:p.Lys3160Asn
XM_017010851.2:c.9492G>C	XP_016866340.1:p.Lys3164Asn
XM_017010852.1:c.7617G>C	XP_016866341.1:p.Lys2539Asn
XR_001743859.1:n.3900+6277C>G
XR_001743860.1:n.1179+6277C>G
XR_001743861.1:n.1346+6277C>G
XR_001743863.1:n.883-13409C>G
XR_002956395.1:n.9131+6277C>G
XR_002956396.1:n.3126+6277C>G
NM_000426.4:c.9222G>C MANE Select	NP_000417.3:p.Lys3074Asn
NM_001079823.2:c.9210G>C	NP_001073291.2:p.Lys3070Asn