Canonical Allele Identifier: CA365613577

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 447685
• ClinVar RCV Id: RCV000015363 ; RCV000518321 ; RCV000853232 ; RCV001857909 ; RCV004527387 ; RCV000985057
• dbSNP Id: rs1554269966
• MyVariant Identifiers: chr6:g.129637097T>C (hg19) ; chr6:g.129315952T>C (hg38)
• PubMed: PMID:9158149 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129315952T>C , CM000668.2:g.129315952T>C	GRCh38
NC_000006.11:g.129637097T>C , CM000668.1:g.129637097T>C	GRCh37
NC_000006.10:g.129678790T>C	NCBI36
NG_008678.1:g.437812T>C , LRG_409:g.437812T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.3924+2T>C	ENSP00000481744.2:n.3924+2T>C
ENST00000618192.5:c.4188+2T>C	ENSP00000480802.2:n.4188+2T>C
ENST00000421865.3:c.3924+2T>C MANE Select	ENSP00000400365.2:n.3924+2T>C
ENST00000421865.2:c.3924+2T>C	ENSP00000400365.2:n.3924+2T>C
ENST00000617695.4:c.3924+2T>C	ENSP00000481744.1:n.3924+2T>C
ENST00000618192.4:c.3924+2T>C	ENSP00000480802.1:n.3924+2T>C
NM_000426.3:c.3924+2T>C , LRG_409t1:c.3924+2T>C	NP_000417.2:n.3924+2T>C
NM_001079823.1:c.3924+2T>C	NP_001073291.1:n.3924+2T>C
XM_005266981.2:c.4188+2T>C	XP_005267038.1:n.4188+2T>C
XM_005266982.2:c.4188+2T>C	XP_005267039.1:n.4188+2T>C
XM_011535820.1:c.4188+2T>C	XP_011534122.1:n.4188+2T>C
XM_005266981.3:c.4188+2T>C	XP_005267038.1:n.4188+2T>C
XM_005266982.3:c.4188+2T>C	XP_005267039.1:n.4188+2T>C
XM_011535820.2:c.4188+2T>C	XP_011534122.1:n.4188+2T>C
XM_017010851.2:c.4194+2T>C	XP_016866340.1:n.4194+2T>C
XM_017010852.1:c.2319+2T>C	XP_016866341.1:n.2319+2T>C
XM_017010853.1:c.4188+2T>C	XP_016866342.1:n.4188+2T>C
NM_000426.4:c.3924+2T>C MANE Select	NP_000417.3:n.3924+2T>C
NM_001079823.2:c.3924+2T>C	NP_001073291.2:n.3924+2T>C