Canonical Allele Identifier: CA818841401

Gene: LAMA2

Linked Data

• dbSNP Id: rs1260020265
• gnomAD v3: 6-129460054-GA-G
• gnomAD v4: 6-129460054-GA-G
• MyVariant Identifiers: chr6:g.129781200del (hg19) ; chr6:g.129460055del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129460058del , CM000668.2:g.129460058del	GRCh38
NC_000006.11:g.129781203del , CM000668.1:g.129781203del	GRCh37
NC_000006.10:g.129822896del	NCBI36
NG_008678.1:g.581918del , LRG_409:g.581918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.6868-142del	ENSP00000481744.2:n.6868-142del
ENST00000618192.5:c.7132-142del	ENSP00000480802.2:n.7132-142del
ENST00000684985.1:n.499-142del
ENST00000688150.1:n.207-142del
ENST00000421865.3:c.6868-142del MANE Select	ENSP00000400365.2:n.6868-142del
ENST00000421865.2:c.6868-142del	ENSP00000400365.2:n.6868-142del
ENST00000617695.4:c.6868-142del	ENSP00000481744.1:n.6868-142del
ENST00000618192.4:c.6865-142del	ENSP00000480802.1:n.6865-142del
NM_000426.3:c.6868-142del , LRG_409t1:c.6868-142del	NP_000417.2:n.6868-142del
NM_001079823.1:c.6868-142del	NP_001073291.1:n.6868-142del
XM_005266981.2:c.7132-142del	XP_005267038.1:n.7132-142del
XM_005266982.2:c.7132-142del	XP_005267039.1:n.7132-142del
XM_011535820.1:c.7126-142del	XP_011534122.1:n.7126-142del
XM_005266981.3:c.7132-142del	XP_005267038.1:n.7132-142del
XM_005266982.3:c.7132-142del	XP_005267039.1:n.7132-142del
XM_011535820.2:c.7126-142del	XP_011534122.1:n.7126-142del
XM_017010851.2:c.7138-142del	XP_016866340.1:n.7138-142del
XM_017010852.1:c.5263-142del	XP_016866341.1:n.5263-142del
NM_000426.4:c.6868-142del MANE Select	NP_000417.3:n.6868-142del
NM_001079823.2:c.6868-142del	NP_001073291.2:n.6868-142del