Canonical Allele Identifier: CA570054645

Gene: LAMA2

Linked Data

• dbSNP Id: rs1420376000
• gnomAD v2: 6-129786573-TGGC-T
• MyVariant Identifiers: chr6:g.129786574_129786576del (hg19) ; chr6:g.129465429_129465431del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129465429_129465431del , CM000668.2:g.129465429_129465431del	GRCh38
NC_000006.11:g.129786574_129786576del , CM000668.1:g.129786574_129786576del	GRCh37
NC_000006.10:g.129828267_129828269del	NCBI36
NG_008678.1:g.587289_587291del , LRG_409:g.587289_587291del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7300+140_7300+142del	ENSP00000481744.2:n.7300+140_7300+142del
ENST00000618192.5:c.7564+140_7564+142del	ENSP00000480802.2:n.7564+140_7564+142del
ENST00000684985.1:n.931+140_931+142del
ENST00000421865.3:c.7300+140_7300+142del MANE Select	ENSP00000400365.2:n.7300+140_7300+142del
ENST00000421865.2:c.7300+140_7300+142del	ENSP00000400365.2:n.7300+140_7300+142del
ENST00000617695.4:c.7300+140_7300+142del	ENSP00000481744.1:n.7300+140_7300+142del
ENST00000618192.4:c.7297+140_7297+142del	ENSP00000480802.1:n.7297+140_7297+142del
NM_000426.3:c.7300+140_7300+142del , LRG_409t1:c.7300+140_7300+142del	NP_000417.2:n.7300+140_7300+142del
NM_001079823.1:c.7300+140_7300+142del	NP_001073291.1:n.7300+140_7300+142del
XM_005266981.2:c.7564+140_7564+142del	XP_005267038.1:n.7564+140_7564+142del
XM_005266982.2:c.7564+140_7564+142del	XP_005267039.1:n.7564+140_7564+142del
XM_011535820.1:c.7558+140_7558+142del	XP_011534122.1:n.7558+140_7558+142del
XM_005266981.3:c.7564+140_7564+142del	XP_005267038.1:n.7564+140_7564+142del
XM_005266982.3:c.7564+140_7564+142del	XP_005267039.1:n.7564+140_7564+142del
XM_011535820.2:c.7558+140_7558+142del	XP_011534122.1:n.7558+140_7558+142del
XM_017010851.2:c.7570+140_7570+142del	XP_016866340.1:n.7570+140_7570+142del
XM_017010852.1:c.5695+140_5695+142del	XP_016866341.1:n.5695+140_5695+142del
NM_000426.4:c.7300+140_7300+142del MANE Select	NP_000417.3:n.7300+140_7300+142del
NM_001079823.2:c.7300+140_7300+142del	NP_001073291.2:n.7300+140_7300+142del