Canonical Allele Identifier: CA365634765

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129826369G>C (hg19) ; chr6:g.129505224G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505224G>C , CM000668.2:g.129505224G>C	GRCh38
NC_000006.11:g.129826369G>C , CM000668.1:g.129826369G>C	GRCh37
NC_000006.10:g.129868062G>C	NCBI36
NG_008678.1:g.627084G>C , LRG_409:g.627084G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.637G>C	ENSP00000510626.1:p.Glu213Gln
ENST00000498257.6:c.637G>C	ENSP00000510533.1:p.Glu213Gln
ENST00000617695.5:c.8560G>C	ENSP00000481744.2:p.Glu2854Gln
ENST00000618192.5:c.8836G>C	ENSP00000480802.2:p.Glu2946Gln
ENST00000688198.1:n.1550G>C
ENST00000688799.1:c.637G>C	ENSP00000508458.1:p.Glu213Gln
ENST00000690858.1:n.1566G>C
ENST00000693461.1:n.909G>C
ENST00000421865.3:c.8572G>C MANE Select	ENSP00000400365.2:p.Glu2858Gln
ENST00000421865.2:c.8572G>C	ENSP00000400365.2:p.Glu2858Gln
ENST00000617695.4:c.8560G>C	ENSP00000481744.1:p.Glu2854Gln
ENST00000618192.4:c.8569G>C	ENSP00000480802.1:p.Glu2857Gln
NM_000426.3:c.8572G>C , LRG_409t1:c.8572G>C	NP_000417.2:p.Glu2858Gln
NM_001079823.1:c.8560G>C	NP_001073291.1:p.Glu2854Gln
XM_005266981.2:c.8836G>C	XP_005267038.1:p.Glu2946Gln
XM_005266982.2:c.8824G>C	XP_005267039.1:p.Glu2942Gln
XM_011535820.1:c.8830G>C	XP_011534122.1:p.Glu2944Gln
XR_942984.1:n.1461-2433C>G
XR_942985.1:n.1325-2433C>G
XM_005266981.3:c.8836G>C	XP_005267038.1:p.Glu2946Gln
XM_005266982.3:c.8824G>C	XP_005267039.1:p.Glu2942Gln
XM_011535820.2:c.8830G>C	XP_011534122.1:p.Glu2944Gln
XM_017010851.2:c.8842G>C	XP_016866340.1:p.Glu2948Gln
XM_017010852.1:c.6967G>C	XP_016866341.1:p.Glu2323Gln
XR_001743859.1:n.3901-2433C>G
XR_001743860.1:n.1180-2433C>G
XR_001743861.1:n.1347-2433C>G
XR_001743863.1:n.883-2433C>G
XR_002956395.1:n.9132-2433C>G
XR_002956396.1:n.3127-2433C>G
NM_000426.4:c.8572G>C MANE Select	NP_000417.3:p.Glu2858Gln
NM_001079823.2:c.8560G>C	NP_001073291.2:p.Glu2854Gln