Canonical Allele Identifier: CA365634871

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129826420A>C (hg19) ; chr6:g.129505275A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505275A>C , CM000668.2:g.129505275A>C	GRCh38
NC_000006.11:g.129826420A>C , CM000668.1:g.129826420A>C	GRCh37
NC_000006.10:g.129868113A>C	NCBI36
NG_008678.1:g.627135A>C , LRG_409:g.627135A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.688A>C	ENSP00000510626.1:p.Lys230Gln
ENST00000498257.6:c.688A>C	ENSP00000510533.1:p.Lys230Gln
ENST00000617695.5:c.8611A>C	ENSP00000481744.2:p.Lys2871Gln
ENST00000618192.5:c.8887A>C	ENSP00000480802.2:p.Lys2963Gln
ENST00000688198.1:n.1601A>C
ENST00000688799.1:c.688A>C	ENSP00000508458.1:p.Lys230Gln
ENST00000690858.1:n.1617A>C
ENST00000693461.1:n.960A>C
ENST00000421865.3:c.8623A>C MANE Select	ENSP00000400365.2:p.Lys2875Gln
ENST00000421865.2:c.8623A>C	ENSP00000400365.2:p.Lys2875Gln
ENST00000617695.4:c.8611A>C	ENSP00000481744.1:p.Lys2871Gln
ENST00000618192.4:c.8620A>C	ENSP00000480802.1:p.Lys2874Gln
NM_000426.3:c.8623A>C , LRG_409t1:c.8623A>C	NP_000417.2:p.Lys2875Gln
NM_001079823.1:c.8611A>C	NP_001073291.1:p.Lys2871Gln
XM_005266981.2:c.8887A>C	XP_005267038.1:p.Lys2963Gln
XM_005266982.2:c.8875A>C	XP_005267039.1:p.Lys2959Gln
XM_011535820.1:c.8881A>C	XP_011534122.1:p.Lys2961Gln
XR_942984.1:n.1461-2484T>G
XR_942985.1:n.1325-2484T>G
XM_005266981.3:c.8887A>C	XP_005267038.1:p.Lys2963Gln
XM_005266982.3:c.8875A>C	XP_005267039.1:p.Lys2959Gln
XM_011535820.2:c.8881A>C	XP_011534122.1:p.Lys2961Gln
XM_017010851.2:c.8893A>C	XP_016866340.1:p.Lys2965Gln
XM_017010852.1:c.7018A>C	XP_016866341.1:p.Lys2340Gln
XR_001743859.1:n.3901-2484T>G
XR_001743860.1:n.1180-2484T>G
XR_001743861.1:n.1347-2484T>G
XR_001743863.1:n.883-2484T>G
XR_002956395.1:n.9132-2484T>G
XR_002956396.1:n.3127-2484T>G
NM_000426.4:c.8623A>C MANE Select	NP_000417.3:p.Lys2875Gln
NM_001079823.2:c.8611A>C	NP_001073291.2:p.Lys2871Gln