Canonical Allele Identifier: CA2639297994

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832127-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832127T>G , CM000679.2:g.63832127T>G	GRCh38
NC_000017.10:g.61909487T>G , CM000679.1:g.61909487T>G	GRCh37
NC_000017.9:g.59263219T>G	NCBI36
NG_053004.1:g.15865A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.3259A>C
ENST00000698013.1:n.3371A>C
ENST00000698014.1:n.3594A>C
ENST00000698015.1:n.2687A>C
ENST00000698016.1:c.*811A>C	ENSP00000513502.1:n.*811A>C
ENST00000698017.1:n.2761A>C
ENST00000698018.1:n.2892A>C
ENST00000698019.1:n.3090A>C
ENST00000698020.1:n.2196A>C
ENST00000698021.1:c.2105A>C
ENST00000698022.1:c.*811A>C	ENSP00000513504.1:n.*811A>C
ENST00000698023.1:n.2790A>C
ENST00000698024.1:n.2652A>C
ENST00000698025.1:n.2812A>C
ENST00000448276.7:c.*811A>C MANE Select	ENSP00000392617.2:n.*811A>C
ENST00000448276.6:c.*811A>C	ENSP00000392617.2:n.*811A>C
ENST00000613943.4:c.2296A>C	ENSP00000483605.1:n.2296A>C
NM_001098426.1:c.*811A>C	NP_001091896.1:n.*811A>C
XM_005257604.2:c.*811A>C	XP_005257661.2:n.*811A>C
NM_001330439.1:c.*811A>C	NP_001317368.1:n.*811A>C
NM_001330440.1:c.*811A>C	NP_001317369.1:n.*811A>C
NM_001098426.2:c.*811A>C MANE Select	NP_001091896.1:n.*811A>C
NM_001330440.2:c.*811A>C	NP_001317369.1:n.*811A>C