Canonical Allele Identifier: CA570054640

Gene: LAMA2

Linked Data

• dbSNP Id: rs1201526683
• gnomAD v2: 6-129786481-C-CT
• MyVariant Identifiers: chr6:g.129786481_129786482insT (hg19) ; chr6:g.129465336_129465337insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129465336_129465337insT , CM000668.2:g.129465336_129465337insT	GRCh38
NC_000006.11:g.129786481_129786482insT , CM000668.1:g.129786481_129786482insT	GRCh37
NC_000006.10:g.129828174_129828175insT	NCBI36
NG_008678.1:g.587196_587197insT , LRG_409:g.587196_587197insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7300+47_7300+48insT	ENSP00000481744.2:n.7300+47_7300+48insT
ENST00000618192.5:c.7564+47_7564+48insT	ENSP00000480802.2:n.7564+47_7564+48insT
ENST00000684985.1:n.931+47_931+48insT
ENST00000421865.3:c.7300+47_7300+48insT MANE Select	ENSP00000400365.2:n.7300+47_7300+48insT
ENST00000421865.2:c.7300+47_7300+48insT	ENSP00000400365.2:n.7300+47_7300+48insT
ENST00000617695.4:c.7300+47_7300+48insT	ENSP00000481744.1:n.7300+47_7300+48insT
ENST00000618192.4:c.7297+47_7297+48insT	ENSP00000480802.1:n.7297+47_7297+48insT
NM_000426.3:c.7300+47_7300+48insT , LRG_409t1:c.7300+47_7300+48insT	NP_000417.2:n.7300+47_7300+48insT
NM_001079823.1:c.7300+47_7300+48insT	NP_001073291.1:n.7300+47_7300+48insT
XM_005266981.2:c.7564+47_7564+48insT	XP_005267038.1:n.7564+47_7564+48insT
XM_005266982.2:c.7564+47_7564+48insT	XP_005267039.1:n.7564+47_7564+48insT
XM_011535820.1:c.7558+47_7558+48insT	XP_011534122.1:n.7558+47_7558+48insT
XM_005266981.3:c.7564+47_7564+48insT	XP_005267038.1:n.7564+47_7564+48insT
XM_005266982.3:c.7564+47_7564+48insT	XP_005267039.1:n.7564+47_7564+48insT
XM_011535820.2:c.7558+47_7558+48insT	XP_011534122.1:n.7558+47_7558+48insT
XM_017010851.2:c.7570+47_7570+48insT	XP_016866340.1:n.7570+47_7570+48insT
XM_017010852.1:c.5695+47_5695+48insT	XP_016866341.1:n.5695+47_5695+48insT
NM_000426.4:c.7300+47_7300+48insT MANE Select	NP_000417.3:n.7300+47_7300+48insT
NM_001079823.2:c.7300+47_7300+48insT	NP_001073291.2:n.7300+47_7300+48insT