Canonical Allele Identifier: CA10622908

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 355303
• ClinVar RCV Id: RCV000291071
• dbSNP Id: rs886061057
• gnomAD v4: 6-129505285-T-G
• MyVariant Identifiers: chr6:g.129826430T>G (hg19) ; chr6:g.129505285T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505285T>G , CM000668.2:g.129505285T>G	GRCh38
NC_000006.11:g.129826430T>G , CM000668.1:g.129826430T>G	GRCh37
NC_000006.10:g.129868123T>G	NCBI36
NG_008678.1:g.627145T>G , LRG_409:g.627145T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.698T>G	ENSP00000510626.1:p.Ile233Ser
ENST00000498257.6:c.698T>G	ENSP00000510533.1:p.Ile233Ser
ENST00000617695.5:c.8621T>G	ENSP00000481744.2:p.Ile2874Ser
ENST00000618192.5:c.8897T>G	ENSP00000480802.2:p.Ile2966Ser
ENST00000688198.1:n.1611T>G
ENST00000688799.1:c.698T>G	ENSP00000508458.1:p.Ile233Ser
ENST00000690858.1:n.1627T>G
ENST00000693461.1:n.970T>G
ENST00000421865.3:c.8633T>G MANE Select	ENSP00000400365.2:p.Ile2878Ser
ENST00000421865.2:c.8633T>G	ENSP00000400365.2:p.Ile2878Ser
ENST00000617695.4:c.8621T>G	ENSP00000481744.1:p.Ile2874Ser
ENST00000618192.4:c.8630T>G	ENSP00000480802.1:p.Ile2877Ser
NM_000426.3:c.8633T>G , LRG_409t1:c.8633T>G	NP_000417.2:p.Ile2878Ser
NM_001079823.1:c.8621T>G	NP_001073291.1:p.Ile2874Ser
XM_005266981.2:c.8897T>G	XP_005267038.1:p.Ile2966Ser
XM_005266982.2:c.8885T>G	XP_005267039.1:p.Ile2962Ser
XM_011535820.1:c.8891T>G	XP_011534122.1:p.Ile2964Ser
XR_942984.1:n.1461-2494A>C
XR_942985.1:n.1325-2494A>C
XM_005266981.3:c.8897T>G	XP_005267038.1:p.Ile2966Ser
XM_005266982.3:c.8885T>G	XP_005267039.1:p.Ile2962Ser
XM_011535820.2:c.8891T>G	XP_011534122.1:p.Ile2964Ser
XM_017010851.2:c.8903T>G	XP_016866340.1:p.Ile2968Ser
XM_017010852.1:c.7028T>G	XP_016866341.1:p.Ile2343Ser
XR_001743859.1:n.3901-2494A>C
XR_001743860.1:n.1180-2494A>C
XR_001743861.1:n.1347-2494A>C
XR_001743863.1:n.883-2494A>C
XR_002956395.1:n.9132-2494A>C
XR_002956396.1:n.3127-2494A>C
NM_000426.4:c.8633T>G MANE Select	NP_000417.3:p.Ile2878Ser
NM_001079823.2:c.8621T>G	NP_001073291.2:p.Ile2874Ser